Netherton's Syndrome: A Case of Two Male Siblings Diagnosed in Adulthood
Netherton's syndrome (NS) is a rare autosomal recessive genetic disease caused by a germline mutation in the SPINK5 gene. It is most commonly diagnosed in neonates due to the presence of congenital ichthyosiform erythroderma. Affected individuals will typically also develop a hair shaft abnorma...
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| Main Authors: | , |
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| Format: | Book |
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Karger Publishers,
2020-04-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |