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The American Journal of Human Genetics, ISSN 0002-9297, 07/2015, Volume 97, Issue 1, pp. 99 - 110
Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To... 
EPITHELIAL-MESENCHYMAL TRANSITION | FAMILIAL OCCURRENCE | SETLEIS SYNDROME | UNDIAGNOSED DISEASES | GENETICS & HEREDITY | MORPHOLOGY STANDARD TERMINOLOGY | SAETHRE-CHOTZEN SYNDROME | FRAMESHIFT MUTATION | ATROPHIC SKIN | TRANSCRIPTION FACTOR | AUTOSOMAL-DOMINANT INHERITANCE | Abnormalities, Multiple - pathology | Humans | Molecular Sequence Data | Hirsutism - pathology | Mutation, Missense - genetics | Chromatin Immunoprecipitation | Base Sequence | Hypertrichosis - pathology | Skin Abnormalities - pathology | Abnormalities, Multiple - genetics | Eyelid Diseases - genetics | Twist-Related Protein 1 - chemistry | Amino Acid Sequence | Eyelid Diseases - pathology | Repressor Proteins - chemistry | Hirsutism - genetics | Macrostomia - pathology | Hypertelorism - genetics | Models, Molecular | Repressor Proteins - genetics | Zebrafish | Hypertelorism - pathology | Macrostomia - genetics | Eye Abnormalities - genetics | Microscopy, Electron | Sequence Analysis, DNA | Exome - genetics | Phenotype | Animals | Hypertrichosis - genetics | Eye Abnormalities - pathology | Twist-Related Protein 1 - genetics | Protein Conformation | Skin Abnormalities - genetics | HeLa Cells | Physiological aspects | Genetic disorders | Gene mutations | Identification and classification | Genotype & phenotype | Correlation analysis | Amino acids | Mutation | Deoxyribonucleic acid--DNA
Journal Article
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
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2001, Volume 27, Issue 2, pp. 159 - 166
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2015, Volume 167, Issue 11, pp. 2555 - 2562
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/2011, Volume 48, Issue 6, pp. 375 - 382
Journal Article
Current Opinion in Ophthalmology, ISSN 1040-8738, 07/2015, Volume 26, Issue 5, pp. 382 - 391
Journal Article