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

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

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...

Full description

Bibliographic Details
Main Authors: D. Hettiarachchi, Hetalkumar Panchal, P. S. Lai, V. H. W. Dissanayake
Format: Article
Language:English
Published: BMC 2020-08-01
Series:BMC Medical Genetics
Subjects:
CHILD syndrome
X-linked dominant
NSDHL gene
Novel variant
Syndactyly
Online Access:http://link.springer.com/article/10.1186/s12881-020-01094-y

Internet

http://link.springer.com/article/10.1186/s12881-020-01094-y

Similar Items