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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
Journal Article
Journal Article
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
Journal Article
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
Journal Article
HAEMATOLOGICA, ISSN 0390-6078, 10/2016, Volume 101, Issue 10, pp. 1180 - 1189
Journal Article
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
Journal Article
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
Journal Article
Pediatric Dermatology, ISSN 0736-8046, 07/2015, Volume 32, Issue 4, pp. e165 - e166
Journal Article