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...
Main Authors: | D. Hettiarachchi, Hetalkumar Panchal, P. S. Lai, V. H. W. Dissanayake |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-08-01
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Series: | BMC Medical Genetics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12881-020-01094-y |
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