Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review
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چکیده
منابع مشابه
Report of a Case of Hypodontia due to Ectodermal Dysplasia: Early Rehabilitation with Overdenture
Alveolar ridge is underdeveloped in ectodermal dysplasia (ED). The available treatment plans include fixed, removable or implant-supported prostheses, alone or in combination. A 5 year-old boy was referred for treatment to the Department of Prosthodontics, Tehran University of Medical Sciences with the chief complaint of missing teeth. Prosthodontic treatment was performed to improve masticatio...
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متن کاملMutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
Ectodermal dysplasias form a large disease family with more than 200 members. The combination of hair and tooth abnormalities, alopecia, and cutaneous syndactyly is characteristic of ectodermal dysplasia-syndactyly syndrome (EDSS). We used a homozygosity mapping approach to map the EDSS locus to 1q23 in a consanguineous Algerian family. By candidate gene analysis, we identified a homozygous mut...
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Two Turkish sibs, products of a second cousin marriage, with tetramelic syndactyly, ectodermal dysplasia, cleft lip and palate, renal anomalies, and mental retardation are reported. Similarities between these two brothers and previously reported cases and their mode of transmission are discussed.
متن کاملMcCune-Albright Syndrome: A Case Report and Literature Review
McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities. We describe a girl patient with MAS having precocious puberty and multiple cafe-au-lait macules and deforming polyostotic fibrous dysplasia of bone. Clinical presentat...
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ژورنال
عنوان ژورنال: Genes
سال: 2021
ISSN: 2073-4425
DOI: 10.3390/genes12050748