First Report of a Known Pathogenic Variant in the FZD6 Gene, in an Iranian Family with Recessive Nail Dysplasia: A Case Report
| Autor: | Ali Najizadeh, Mirsajjad Mousavi-Asl Germeh Cheshmeh, Saied Hosseini-Asl, Roshanak Jazayeri, Hooshang Zaimkohan |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
medicine.medical_specialty
Nail dysplasia integumentary system business.industry lcsh:Public aspects of medicine Autosomal recessive Public Health Environmental and Occupational Health Abnormal Nails lcsh:RA1-1270 Case Report Iran medicine.disease Dermatology medicine.anatomical_structure FZD6 gene Dysplasia Nail (anatomy) Medicine business skin and connective tissue diseases Gene NAIL DYSTROPHY |
| Zdroj: | Iranian Journal of Public Health Iranian Journal of Public Health, Vol 48, Iss 7 (2019) |
| ISSN: | 2251-6093 2251-6085 |
| Popis: | Congenital Nail abnormalities are rare ectodermal defects. Autosomal recessive nail dysplasia is much rarer. Recently it has been recognized as a condition resulting in nail dystrophy in the absence of other cutaneous or extracutaneous disorders. Few case reports have identified mutations in the Frizzled 6 (FZD6) gene in families presenting with abnormal nails consistent with Non-Syndromic Congenital Nail Dysplasia. We report a family presenting, they lived in Namin a country of the Ardabil Province, northwestern Iran in 2016, for the first time in Iran in whom we identified mutations in FZD6 with abnormal nails formation. |
| Databáze: | OpenAIRE |
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