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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
Journal Article
Epileptic disorders, ISSN 1294-9361, 06/2016, Volume 18, Issue 2, pp. 123 - 136
Aim. KCNH1 mutations have been identified in patients with Zimmermann-Laband syndrome and Temple-Baraitser syndrome, as well as patients with uncharacterized... 
Temple‐Baraitser syndrome | genetic epilepsy | KCNH1‐related encephalopathy | undefined intellectual disability | Zimmermann‐Laband syndrome | KCNH1-Related encephalopathy | Zimmermann-laband syndrome | Temple-baraitser syndrome | Genetic epilepsy | Undefined intellectual disability | KCNH1-related encephalopathy | Zimmermann-Laband syndrome | MICE | Temple-Baraitser syndrome | MUTATIONS | CLINICAL NEUROLOGY | Hallux - abnormalities | Humans | Thumb - physiopathology | Child, Preschool | Fibromatosis, Gingival - genetics | Infant | Male | Abnormalities, Multiple - drug therapy | Electroencephalography | Craniofacial Abnormalities - physiopathology | Epilepsy - physiopathology | Fibromatosis, Gingival - drug therapy | Nails, Malformed - physiopathology | Intellectual Disability - genetics | Young Adult | Adult | Epilepsy - genetics | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Brain - physiopathology | Anticonvulsants - therapeutic use | Craniofacial Abnormalities - drug therapy | Nails, Malformed - drug therapy | Ether-A-Go-Go Potassium Channels - genetics | Abnormalities, Multiple - physiopathology | Syndrome | Nails, Malformed - genetics | Hand Deformities, Congenital - drug therapy | Intellectual Disability - drug therapy | Intellectual Disability - physiopathology | Fibromatosis, Gingival - physiopathology | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Adolescent | Epilepsy - drug therapy | Hallux - physiopathology | Thumb - abnormalities | Convulsions & seizures | Mutation | Intellectual disabilities | Epilepsy
Journal Article
Journal Article
Journal Article
Dermatology Online Journal, ISSN 1087-2108, 2012, Volume 18, Issue 6, p. 2
We report a family affected with Witkop tooth and nail syndrome. This is a rare syndrome among the ectodermal dysplasias in which there are abnormalities of... 
Young Adult | Humans | Adolescent | Female | Anodontia - pathology | Anodontia - physiopathology | Nails, Malformed - physiopathology | Nails, Malformed - pathology
Journal Article
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 12/2004, Volume 123, Issue 6, pp. 1001 - 1011
Journal Article
Dermatology, ISSN 1018-8665, 01/2013, Volume 225, Issue 3, pp. 210 - 214
Journal Article
Journal Article
Journal of the American Academy of Dermatology, ISSN 0190-9622, 1999, Volume 40, Issue 3, pp. 497 - 498
Journal Article
Journal of the American Academy of Dermatology, ISSN 0190-9622, 1999, Volume 40, Issue 3, pp. 498 - 498
Journal Article
British Journal of Dermatology, ISSN 0007-0963, 07/1996, Volume 135, Issue 1, pp. 151 - 152
Journal Article
by Ogo, K and Ogo, Ken
Plastic and Reconstructive Surgery, ISSN 0032-1052, 1990, Volume 86, Issue 6, pp. 1190 - 1193
Photographic documentation of successful surgical correction of two major vertical-type and one horizontal-type split nail is presented. The developmental... 
SURGERY | Nails, Malformed - surgery | Humans | Wounds and Injuries - complications | Child, Preschool | Adult | Female | Male | Nails, Malformed - etiology | Nails, Malformed - physiopathology | Surgical Procedures, Operative - methods
Journal Article
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete, ISSN 0017-8470, 12/1994, Volume 45, Issue 12, p. 866
We report on a patient with marked clubbing of the fingers and toes with watch-glass deformity of the nails, diagnosed as idiopathic clubbing. New findings on... 
Osteoarthropathy, Secondary Hypertrophic - physiopathology | Diagnosis, Differential | Humans | Osteoarthropathy, Secondary Hypertrophic - etiology | Adult | Male | Nails, Malformed - etiology | Nails, Malformed - physiopathology | Platelet-Derived Growth Factor - physiology | Cytokines - physiology
Journal Article
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