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1. Full Text Dyskeratosis Congenita
by Kelmenson, Daniel A and Hanley, Michael
The New England Journal of Medicine, ISSN 0028-4793, 04/2017, Volume 376, Issue 15, pp. 1460 - 1460
A 52-year-old man with a history of unexplained pancytopenia presented with cough and dyspnea. Findings on physical examination were suggestive of dyskeratosis... 
MEDICINE, GENERAL & INTERNAL | Telomere - ultrastructure | Dyskeratosis Congenita - diagnosis | Humans | Male | Nail Diseases | Leukoplakia | Blood Cell Count | Dyskeratosis | Dyspnea | Pulmonary fibrosis | Pancytopenia | Bone marrow | Respiration | Cough
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2. Full Text Telomere Phenotypes in Females with Heterozygous Mutations in the Dyskeratosis Congenita 1 (DKC1) Gene
by Alder, Jonathan K and Parry, Erin M and Yegnasubramanian, Srinivasan and Wagner, Christa L and Lieblich, Lawrence M and Auerbach, Robert and Auerbach, Arleen D and Wheelan, Sarah J and Armanios, Mary
Human Mutation, ISSN 1059-7794, 11/2013, Volume 34, Issue 11, pp. 1481 - 1485
ABSTRACT Dyskeratosis congenita (DC) is a telomere‐mediated syndrome defined by mucocutaneous features. The X‐linked mode of inheritance accounts for half the... 
Dyskeratosis congenita | telomerase | myelodysplastic syndrome | DKC1 | pulmonary fibrosis | Pulmonary fibrosis | Telomerase | Myelodysplastic syndrome | RTEL1 | DEFECTS | IDENTIFICATION | CARRIERS | INACTIVATION | DISEASE | GENETICS & HEREDITY | COMPONENT | ANEMIA | Amino Acid Sequence | Humans | Middle Aged | Molecular Sequence Data | Male | Dyskeratosis Congenita - genetics | Nuclear Proteins - chemistry | Cell Cycle Proteins - chemistry | Phenotype | Sequence Alignment | Dyskeratosis Congenita - diagnosis | Cell Cycle Proteins - genetics | Female | Heterozygote | Mutation | Nuclear Proteins - genetics | Telomere - genetics | RNA | Gene mutations | Lubrication and lubricants | Genes | Respiratory tract diseases | Genetic aspects | Bone marrow | dyskeratosis congenita
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3. Full Text Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita
by Alter, Blanche P and Baerlocher, Gabriela M and Savage, Sharon A and Chanock, Stephen J and Weksler, Babette B and Willner, Judith P and Peters, June A and Giri, Neelam and Lansdorp, Peter M
Blood, ISSN 0006-4971, 09/2007, Volume 110, Issue 5, pp. 1439 - 1447
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome in which the known susceptibility genes (DKC1, TERC, and TERT) belong to the telomere... 
GENE | REVERSE-TRANSCRIPTASE | DISEASE | ANTICIPATION | COMPONENT | MUTATIONS | SHWACHMAN-DIAMOND-SYNDROME | HEMATOLOGY | APLASTIC-ANEMIA | FANCONI-ANEMIA | TRANSPLANTATION | Bone Marrow Diseases - diagnosis | Leukocytes - pathology | Humans | Middle Aged | Child, Preschool | Infant | Male | Dyskeratosis Congenita - genetics | RNA - genetics | Flow Cytometry | Telomerase - genetics | Bone Marrow Diseases - therapy | Dyskeratosis Congenita - diagnosis | Dyskeratosis Congenita - therapy | Aged, 80 and over | Cell Cycle Proteins - genetics | Adult | Nuclear Proteins - genetics | Child | Infant, Newborn | Telomere - genetics | Diagnosis, Differential | In Situ Hybridization, Fluorescence | Bone Marrow Diseases - pathology | Bone Marrow Diseases - genetics | Telomere - pathology | Adolescent | Dyskeratosis Congenita - pathology | Aged | Antigens, CD | Clinical Trials and Observations
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4. Research progress of dyskeratosis congenita
by Wang, F and Du, Y Q and Gong, W and Sun, C K and Zeng, X
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology, ISSN 1002-0098, 02/2019, Volume 54, Issue 2, p. 130
Dyskeratosis congenita (DC) is a rare disease and a genetic heterogeneity of bone marrow failure, characterized by muco-cutaneous triad of mucosal leukoplakia,... 
Diagnosis, Differential | Dyskeratosis Congenita - diagnosis | Humans | Research | Dyskeratosis Congenita - genetics | Genetic Heterogeneity | Pigmentation Disorders
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5. Full Text Telomere length is associated with disease severity and declines with age in dyskeratosis congenita
by Blanche P. Alter and Philip S. Rosenberg and Neelam Giri and Gabriela M. Baerlocher and Peter M. Lansdorp and Sharon A. Savage
Haematologica, ISSN 0390-6078, 03/2012, Volume 97, Issue 3, pp. 353 - 359
Background Dyskeratosis congenita is a cancer-prone bone marrow failure syndrome caused by aberrations in telomere biology. Design and Methods We studied 65... 
Telomeres | Dyskeratosis congenita | Bone marrow failure | Longitudinal study | bone marrow failure | dyskeratosis congenita | telomeres | TINF2 | longitudinal study | MUTATIONS | HEMATOLOGY | APLASTIC-ANEMIA | Age Factors | Humans | Middle Aged | Child, Preschool | Infant | Male | Dyskeratosis Congenita - genetics | Disease Progression | Young Adult | Telomere Shortening | Aging - genetics | Dyskeratosis Congenita - diagnosis | Adolescent | Adult | Female | Aged | Child | Longitudinal Studies | Infant, Newborn | Original and Brief Reports
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6. Full Text Clinical utility gene card for: Dyskeratosis congenita - update 2015
by Dokal, Inderjeet and Vulliamy, Tom and Mason, Philip and Bessler, Monica
European journal of human genetics : EJHG, ISSN 1018-4813, 04/2015, Volume 23, Issue 4, pp. 558 - 558
MUTATIONS | APLASTIC-ANEMIA | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | TELOMERE LENGTH | Genetic Testing | Humans | Ribonucleoproteins, Small Nuclear - genetics | Phosphoric Diester Hydrolases - genetics | Ribonucleoproteins, Small Nucleolar - genetics | Dyskeratosis Congenita - genetics | RNA - genetics | Telomere-Binding Proteins - genetics | Telomerase - genetics | Dyskeratosis Congenita - diagnosis | DNA Fragmentation | Sensitivity and Specificity | Cell Cycle Proteins - genetics | Nuclear Proteins - genetics | DNA Helicases - genetics | Clinical Utility Gene Card Update
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7. Full Text The genomics of inherited bone marrow failure: from mechanism to the clinic
by Wegman‐Ostrosky, Talia and Savage, Sharon A
British Journal of Haematology, ISSN 0007-1048, 05/2017, Volume 177, Issue 4, pp. 526 - 542
Summary The inherited bone marrow failure syndromes (IBMFS) typically present with significant cytopenias in at least one haematopoietic cell lineage that may... 
Fanconi anaemia | Shwachman Diamond syndrome | dyskeratosis congenita | Diamond Blackfan anaemia | inherited bone marrow failure | HOYERAAL-HREIDARSSON-SYNDROME | ACUTE MYELOGENOUS LEUKEMIA | SOMATIC MOSAICISM | FANCONI-ANEMIA | C-MPL MUTATIONS | CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA | CROSS-LINK REPAIR | DYSKERATOSIS-CONGENITA | DIAMOND-BLACKFAN ANEMIA | HEMATOLOGY | APLASTIC-ANEMIA | Exocrine Pancreatic Insufficiency - genetics | Bone Marrow Diseases - diagnosis | Humans | Exocrine Pancreatic Insufficiency - diagnosis | Dyskeratosis Congenita - genetics | Genetic Counseling | Neutropenia - congenital | Anemia, Aplastic - diagnosis | Neutropenia - diagnosis | Dyskeratosis Congenita - diagnosis | Fanconi Anemia - genetics | Genomics - methods | Hemoglobinuria, Paroxysmal - diagnosis | Neutropenia - genetics | Anemia, Aplastic - genetics | Telomere - genetics | Blood Platelet Disorders - genetics | Hemoglobinuria, Paroxysmal - genetics | Lipomatosis - genetics | Blood Platelet Disorders - diagnosis | Anemia, Diamond-Blackfan - diagnosis | Bone Marrow Diseases - genetics | Fanconi Anemia - diagnosis | Ribosomes - genetics | Anemia, Diamond-Blackfan - genetics | Lipomatosis - diagnosis | DNA Repair-Deficiency Disorders - genetics | Genetic research | Genomics | Fanconi's anemia | Dyskeratosis | Anemia | Diamonds | Disorders | Health risks | Cell lineage | Biology | Patients | Genetic screening | Gene sequencing | Pancytopenia | Bone marrow | Diagnostic systems | Genetic counselling | Cancer
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8. Full Text Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
by Vulliamy, Tom and Walne, Amanda and Dokal, Inderjeet and Mason, Philip J and Marrone, Anna and Szydlo, Richard
Nature Genetics, ISSN 1061-4036, 05/2004, Volume 36, Issue 5, pp. 447 - 449
Telomerase is a ribonucleoprotein complex that is required to synthesize DNA repeats at the ends of each chromosome. The RNA component of this reverse... 
CELLS | COMPONENT | APLASTIC-ANEMIA | SMALL NUCLEOLAR RNAS | LENGTH | GENETICS & HEREDITY | Sequence Deletion | Humans | Middle Aged | Child, Preschool | Male | Dyskeratosis Congenita - genetics | Mutation - genetics | RNA - genetics | Telomerase - genetics | Genes, Dominant | Dyskeratosis Congenita - diagnosis | Pedigree | Adolescent | Adult | Family | Female | Child | Telomere - genetics | Gene mutations | Epithelial cells | Abnormalities | Physiological aspects | Causes of | Genetic aspects | Research | Health aspects | Telomerase
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9. Full Text Frosted branch angiitis in pediatric dyskeratosis congenita: A case report
by Zheng, Xiao-Yu and Xu, Jia and Li, Wei and Li, Si-Si and Shi, Cai-Ping and Zhao, Zheng-Yan and Mao, Jian-Hua and Chen, Xi
Medicine (United States), ISSN 0025-7974, 2016, Volume 95, Issue 12, p. e3106
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome, usually presented with abnormal skin pigmentation, nail dystrophy, and oral... 
Acyclovir - therapeutic use | Follow-Up Studies | Methylprednisolone - therapeutic use | Tomography, Optical Coherence | Bone Marrow Diseases | Humans | Hematopoietic Stem Cell Transplantation | Male | Combined Modality Therapy | Anemia, Aplastic | Opportunistic Infections - therapy | Cord Blood Stem Cell Transplantation | Opportunistic Infections - diagnosis | Retinal Vessels - pathology | Retinal Vasculitis - diagnosis | Dyskeratosis Congenita - diagnosis | Dyskeratosis Congenita - therapy | Retinal Vasculitis - therapy | Hemoglobinuria, Paroxysmal - therapy | Hemoglobinuria, Paroxysmal - diagnosis | Child | Optic Atrophy - diagnosis | Pneumonia, Mycoplasma - diagnosis | Fluorescein Angiography
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10. Full Text Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis
by Walne, AJ and Collopy, L and Cardoso, S and Ellison, A and Plagnol, V and Albayrak, C and Albayrak, D and Kilic, SS and Patiroglu, T and Akar, H and Godfrey, K and Carter, T and Marafie, M and Vora, A and Sundin, M and Vulliamy, T and Tummala, H and Dokal, I
HAEMATOLOGICA, ISSN 0390-6078, 10/2016, Volume 101, Issue 10, pp. 1180 - 1189
Dyskeratosis congenita is a highly pleotropic genetic disorder. This heterogeneity can lead to difficulties in making an accurate diagnosis and delays in... 
NEUTROPENIA | LENGTH | C16ORF57 | POIKILODERMA | MUTATIONS | MATURATION | HEMATOLOGY | GRHL2 | BONE-MARROW FAILURE | TELOMERE BIOLOGY | FAMILY | Exome - genetics | DNA Ligase ATP - genetics | Dyskeratosis Congenita - diagnosis | Pedigree | Humans | Genetic Variation - genetics | Phosphoric Diester Hydrolases - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Dyskeratosis Congenita - genetics | Sequence Analysis, DNA | Syndrome
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11. Full Text A unique homozygous WRAP53 Arg298Trp mutation underlies dyskeratosis congenita in a Chinese Han family
by Shao, Yingqi and Feng, Sizhou and Huang, Jinbo and Huo, Jiali and You, Yahong and Zheng, Yizhou
BMC Medical Genetics, ISSN 1471-2350, 03/2018, Volume 19, Issue 1, pp. 40 - 7
Background: Dyskeratosis congenita (DC) is an inherited telomeropathy characterized by mucocutaneous dysplasia, bone marrow failure, cancer predisposition, and... 
Dyskeratosis congenita | Homozygous | WRAP53 | PROTEIN | LENGTH | BIOLOGY | GENETICS & HEREDITY | TELOMERASE COMPONENT | BONE-MARROW FAILURE | Amino Acid Sequence | Humans | Middle Aged | Asian Continental Ancestry Group - genetics | Male | Dyskeratosis Congenita - genetics | Sequence Analysis, DNA | Telomere | Homozygote | Telomerase - genetics | Dyskeratosis Congenita - diagnosis | Pedigree | Adult | Female | Heterozygote | Consanguinity | High-Throughput Nucleotide Sequencing | Mutation | Care and treatment | Corticosteroids | Gene mutations | Epithelial cells | Abnormalities | Dosage and administration | Genetic aspects | Research | Diagnosis | Danazol | Dyskeratosis congenita
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12. Dyskeratosis congenita
by Keeling, Brett and Antia, Camila and Steadmon, Matthew and Wesson, Stanton and Williams, Charles
Dermatology Online Journal, ISSN 1087-2108, 2014, Volume 20, Issue 9
Dyskeratosis congenita is a rare disorder that often leads to early death owing to a variety of complications and associated disorders. Early diagnosis and... 
Exanthema - etiology | Dyskeratosis Congenita - diagnosis | Liver Cirrhosis - complications | Dental Caries - complications | Humans | Blepharitis - complications | Male | Dyskeratosis Congenita - genetics | Child | Nails, Malformed - complications
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13. Full Text Dyskeratosis congenita in all its forms
by Dokal, Inderjeet
British Journal of Haematology, ISSN 0007-1048, 09/2000, Volume 110, Issue 4, pp. 768 - 779
bone marrow failure | dyskeratosis congenita | Hoyeraal-Hreidarsson syndrome | chromosomal instability | aplastic anaemia | Hoyeraal–Hreidarsson syndrome | Dyskeratosis congenita | Aplastic anaemia | Chromosomal instability | Bone marrow failure | HOYERAAL-HREIDARSSON-SYNDROME | COLONY-STIMULATING FACTOR | RIBOSOMAL-RNA | NUCLEOLAR PROTEIN | BONE-MARROW TRANSPLANTATION | PSEUDOURIDINE SYNTHASE | INTERSTITIAL PULMONARY-DISEASE | X-CHROMOSOME INACTIVATION | HEMATOLOGY | APLASTIC-ANEMIA | CEREBELLAR HYPOPLASIA | Humans | Male | Genetic Therapy - trends | Dyskeratosis Congenita - genetics | Genes, Recessive | Dyskeratosis Congenita - diagnosis | Dyskeratosis Congenita - therapy | Cell Cycle Proteins - genetics | X Chromosome | Female | Registries | Consanguinity | Mutation | Nuclear Proteins - genetics | Anemia, Aplastic - genetics | Genetic Linkage
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14. Full Text Dyskeratosis congenita: The first NIH clinical research workshop
by Savage, Sharon A and Dokal, Inderjeet and Armanios, Mary and Aubert, Geraldine and Cowen, Edward W and Domingo, Demetrio L and Giri, Neelam and Greene, Mark H and Orchard, Paul J and Tolar, Jakub and Tsilou, Ekaterini and Van Waes, Carter and Wong, Judy M.Y and Young, Neal S and Alter, Blanche P
Pediatric Blood & Cancer, ISSN 1545-5009, 09/2009, Volume 53, Issue 3, pp. 520 - 523
Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure syndrome, characterized by abnormally short telomeres and mutations in telomere... 
bone marrow failure | dyskeratosis congenita | telomere | Bone marrow failure | Dyskeratosis congenita | Telomere | Dyskeratosis Congenita - genetics | Dyskeratosis Congenita - diagnosis | Dyskeratosis Congenita - therapy | Humans
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15. Full Text Pulmonary Arteriovenous Malformations in Dyskeratosis Congenita
by Samuel, Bennett P and Duffner, Ulrich A and Abdel‐Mageed, Aly S and Vettukattil, Joseph J
Pediatric Dermatology, ISSN 0736-8046, 07/2015, Volume 32, Issue 4, pp. e165 - e166
Pulmonary arteriovenous malformations (PAVMs) are rare lesions known to cause cyanosis due to abnormal communication between the pulmonary arteries and veins.... 
PEDIATRICS | DISEASE | DERMATOLOGY | Pulmonary Veins - abnormalities | Dyskeratosis Congenita - complications | Dyskeratosis Congenita - diagnosis | Humans | Arteriovenous Malformations - etiology | Bone Marrow Transplantation - adverse effects | Pulmonary Artery - abnormalities | Arteriovenous Malformations - diagnosis | Male | Child | Arteriovenous malformations
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