A case of Netherton syndrome with intestinal atresia, a novel SPINK5 mutation, and a fatal course
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DOI: 10.1111/ijd.13730
Abstract: Netherton syndrome (NS) (OMIM no. 256500) is a rare autosomal recessive disorder. It may manifest at birth with the classic triad of congenital ichthyosis, hair shaft abnormalities, and atopic diathesis. Netherton syndrome is caused by… read more here.
Keywords: intestinal atresia; fatal course; case; atresia novel ... See more keywords