First Report of a Known Pathogenic Variant in the FZD6 Gene, in an Iranian Family with Recessive Nail Dysplasia: A Case Report.

Abstract:

: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.

journal_name

Iran J Public Health

authors

Mousavi-Asl Germeh Cheshmeh M,Najizadeh A,Hosseini-Asl S,Zaimkohan H,Jazayeri R

subject

Has Abstract

pub_date

2019-07-01 00:00:00

pages

1369-1374

issue

7

eissn

2251-6085

issn

2251-6093

journal_volume

48

pub_type

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