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

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. Mutatio...

Source: BMC Medical Genetics - August 20, 2020 Category: Genetics & Stem Cells Authors: D. Hettiarachchi, Hetalkumar Panchal, P. S. Lai and V. H. W. Dissanayake Tags: Case report Source Type: research