Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report

• المؤلفون الرئيسيون: D. Hettiarachchi (مؤلف), Hetalkumar Panchal (مؤلف), P. S. Lai (مؤلف), V. H. W. Dissanayake (مؤلف)
• التنسيق: كتاب
• منشور في: BMC, 2020-08-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

Abstract Background Congenital hemidysplasia with ichthyosiform erythroderma and limb defects also known as CHILD syndrome is an X-linked dominant, male lethal genodermatosis with a prevalence of 1 in 100,000 live births. Mutations in NSDHL gene located at Xq28 potentially impair the function of NAD...