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American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2017, Volume 173, Issue 11, pp. 3114 - 3117
CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A... 
ectodermal dysplasia | Bartsocas‐Papas syndrome | CHAND syndrome | RIPK4 | AEC | Bartsocas-Papas syndrome | KERATINOCYTE DIFFERENTIATION | DEFECTS | ANKYLOBLEPHARON | DISORDERS | POPLITEAL PTERYGIUM SYNDROME | P63 | GENETICS & HEREDITY | SPECTRUM | ECTODERMAL DYSPLASIAS | Cleft Palate - diagnosis | Hair Diseases - genetics | Cleft Lip - diagnosis | Humans | Child, Preschool | Knee - abnormalities | Male | Cleft Palate - genetics | Nails, Malformed - physiopathology | Knee - physiopathology | Language Development Disorders - diagnosis | Hair Diseases - physiopathology | Female | Fetus | Language Development Disorders - physiopathology | Eyelid Diseases - physiopathology | Eyelid Diseases - genetics | Infant, Newborn | Eye Abnormalities - diagnosis | Language Development Disorders - genetics | Protein-Serine-Threonine Kinases - genetics | Cleft Palate - physiopathology | Eye Abnormalities - genetics | Hair Diseases - diagnosis | Nails, Malformed - genetics | Homozygote | Cleft Lip - genetics | Exome - genetics | Cleft Lip - physiopathology | Eyelid Diseases - diagnosis | Eye Abnormalities - physiopathology | Consanguinity | Mutation | Syndactyly - physiopathology | Syndactyly - diagnosis | Nails, Malformed - diagnosis | Syndactyly - genetics | Dysplasia | Popliteal pterygium syndrome | Fetuses | Hereditary diseases | Index Medicus
Journal Article
Journal Article
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 03/2018, Volume 19, Issue 1, pp. 41 - 41
Background: Ectodermal dysplasias (ED) are a group of diseases that affects the development or function of the teeth, hair, nails and exocrine and sebaceous... 
1q21.1 microdeletion syndrome | Bartsocas-Papas syndrome | CHUK | Cocoon syndrome | AEC | DEFECTS | RIPK4 | DISORDERS | GENETICS & HEREDITY | MALFORMATION | INTEGRATIVE GENOMICS VIEWER | COHORT | MUTATIONS | SPECTRUM | ASSOCIATION | Cleft Palate - diagnosis | Cleft Lip - diagnosis | Genetic Testing | Immunoglobulin G - blood | Humans | Eyelids - abnormalities | Child, Preschool | Male | Cleft Palate - genetics | Mutation, Missense | Genetic Variation | Microarray Analysis | Tumor Suppressor Proteins - genetics | Chromosomes, Human, Pair 1 - genetics | Immunologic Deficiency Syndromes - diagnosis | Abnormalities, Multiple - genetics | Chromosome Deletion | Megalencephaly - genetics | Amino Acid Sequence | Eye Abnormalities - diagnosis | Gene Frequency | Ectodermal Dysplasia - diagnosis | Protein-Serine-Threonine Kinases - genetics | Interferon Regulatory Factors - genetics | I-kappa B Kinase - genetics | Transcription Factors - genetics | Eye Abnormalities - genetics | Cleft Lip - genetics | Phenotype | Pedigree | Immunologic Deficiency Syndromes - genetics | Heterozygote | Ectodermal Dysplasia - genetics | Genetic disorders | Genetic variation | Immunological deficiency syndromes | Genetic aspects | Research | Ectodermal dysplasia | Infection | Dysplasia | DNA microarrays | Immunodeficiency | Development and progression | Skin | Health aspects | Index Medicus | Bartsocas–Papas syndrome
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2015, Volume 167, Issue 11, pp. 2555 - 2562
Journal Article
Cellular Signalling, ISSN 0898-6568, 07/2015, Volume 27, Issue 7, pp. 1509 - 1516
IRF6 and RIPK4 are critical regulators of keratinocyte differentiation and their mutation cause the developmental syndromes Van der Woude syndrome (VWS) and... 
Protein degradation | IRF6 | Mutation | RIPK4 | Cleft lip/palate | TRANSCRIPTION FACTORS | REGULATORY FACTOR 6 | KERATINOCYTE DIFFERENTIATION | WOUDE SYNDROME PATIENTS | PROTEIN-KINASE | POPLITEAL PTERYGIUM SYNDROME | INDEPENDENT MANNER | CELL BIOLOGY | BARTSOCAS-PAPAS SYNDROME | C-ASSOCIATED KINASE | NF-KAPPA-B | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Lip - abnormalities | Phosphorylation | Humans | Transcriptional Activation | Interferon Regulatory Factors - metabolism | Knee - pathology | Half-Life | Knee - abnormalities | Cytoplasm - metabolism | JNK Mitogen-Activated Protein Kinases - metabolism | NF-kappa B - metabolism | Syndactyly - pathology | Mutation, Missense | Lip - metabolism | Cysts - metabolism | Cleft Lip - pathology | HEK293 Cells | Eye Abnormalities - metabolism | Protein-Serine-Threonine Kinases - metabolism | Lip - pathology | Protein Structure, Tertiary | Recombinant Fusion Proteins - biosynthesis | Cell Line | Promoter Regions, Genetic | Signal Transduction | Syndactyly - metabolism | Protein-Serine-Threonine Kinases - genetics | Interferon Regulatory Factors - genetics | Recombinant Fusion Proteins - chemistry | Cleft Lip - metabolism | Cysts - pathology | beta Catenin - metabolism | Eye Abnormalities - pathology | Cleft Palate - pathology | Recombinant Fusion Proteins - genetics | Cleft Palate - metabolism | Genetic aspects | Interferon | Biological response modifiers | Proteolysis | Protein kinases | Index Medicus
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2015, Volume 167, Issue 3, pp. 545 - 552
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 06/2007, Volume 27, Issue 6, pp. 563 - 565
Journal Article
NEW ENGLAND JOURNAL OF MEDICINE, ISSN 0028-4793, 10/2010, Volume 363, Issue 17, pp. 1631 - 1637
We report an autosomal recessive lethal syndrome characterized by multiple fetal malformations, the most obvious anomalies being the defective face and... 
MORPHOGENESIS | MEDICINE, GENERAL & INTERNAL | KAPPA-B-KINASE | EPIDERMAL DIFFERENTIATION | BARTSOCAS-PAPAS-SYNDROME | IKK-ALPHA | SKIN | CANCER | MICE LACKING
Journal Article
Structure, ISSN 0969-2126, 05/2018, Volume 26, Issue 5, pp. 767 - 777.e5
Journal Article
Journal Article