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...
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| Main Authors: | , , , |
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| Format: | Book |
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BMC,
2020-08-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |