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The American Journal of Human Genetics, ISSN 0002-9297, 08/2019, Volume 105, Issue 2, pp. 384 - 394
Journal Article
Journal Article
Pediatric Dermatology, ISSN 0736-8046, 09/2016, Volume 33, Issue 5, pp. e288 - e289
Congenital malalignment of the great toenails (CMGT) has been well documented. In the present case, it was complicated by acute paronychia. It is important for... 
TOE NAIL | PEDIATRICS | DERMATOLOGY | Nails, Malformed - therapy | Paronychia - etiology | Humans | Paronychia - diagnosis | Female | Nails, Malformed - congenital | Child | Paronychia - therapy | Nails, Malformed - diagnosis | Genetic disorders
Journal Article
Journal of Hand Surgery (European Volume), ISSN 1753-1934, 3/2016, Volume 41, Issue 3, pp. 348 - 349
Journal Article
American journal of medical genetics. Part C, Seminars in medical genetics, ISSN 1552-4868, 2014, Volume 166, Issue 3, pp. 327 - 332
DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal... 
phenotype | DOORS syndrome | SMARCB1 | DOOR syndrome | TBC1D24 | seizures | deafness | genotype‐phenotype correlation | intellectual disability | Deafness | Phenotype | Intellectual disability | Genotype-phenotype correlation | Seizures | Genotypephenotype correlation | MENTAL-RETARDATION | ERONEN SYNDROME | genotype-phenotype correlation | ONYCHODYSTROPHY | GENETICS & HEREDITY | RENO-CEREBRAL SYNDROME | MUTATIONS | CONGENITAL DEAFNESS | NICOLAIDES-BARAITSER SYNDROME | Abnormalities, Multiple - etiology | Seizures - genetics | Face - abnormalities | Humans | Hand Deformities, Congenital - etiology | Micrognathism - etiology | Intellectual Disability - genetics | Exome | SMARCB1 Protein | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Genetic Association Studies | Micrognathism - genetics | Craniofacial Abnormalities - etiology | Hearing Loss, Sensorineural - genetics | Neck - abnormalities | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Chromosomal Proteins, Non-Histone - genetics | Nails, Malformed - genetics | Carrier Proteins - genetics | Hand Deformities, Congenital - genetics | Hearing Loss, Sensorineural - etiology | Intellectual Disability - etiology | Mutation | Nails, Malformed - etiology | Genetic aspects | Seizures (Medicine) | Mental illness | Analysis
Journal Article
Journal Article
Journal Article
JAMA Dermatology, ISSN 2168-6068, 09/2018, Volume 154, Issue 9, pp. 1091 - 1092
Journal Article
CMAJ, ISSN 0820-3946, 03/2014, Volume 186, Issue 5, pp. 371 - 371
Journal Article
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