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Iranian Journal of Public Health، جلد ۴۸، شماره ۷، صفحات ۱۳۶۹-۱۳۷۴

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عنوان انگلیسی First Report of a Known Pathogenic Variant in the FZD6 Gene, in an Iranian Family with Recessive Nail Dysplasia: A Case Re-port
چکیده انگلیسی مقاله 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.    
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نویسندگان مقاله | Mirsajjad MOUSAVI-ASL GERMEH CHESHMEH
Student Research Committee, Ardabil University of Medical Sciences, Ardabil, Iran


| Ali NAJIZADEH
Student Research Committee, Alborz University of Medical Sciences, Karaj, Iran


| Saied HOSSEINI-ASL
Homa Gene Clinic, Department of Genetics, School of Medicine, Ardabil University of Medical Sciences, Ardabil, Iran


| Hooshang ZAIMKOHAN
1. Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran 2. Department of Biochemistry, Genetics and Nutrition, Faculty of Medicine, Alborz University of Medical Sciences, Karaj, Iran



نشانی اینترنتی http://ijph.tums.ac.ir/index.php/ijph/article/view/17599
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