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Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

✍ Scribed by Hovnanian, Alain; Chavanas, Stéphane; Bodemer, Christine; Rochat, Ariane; Hamel-Teillac, Dominique; Ali, Mohsin; Irvine, Alan D.; Bonafé, Jean-Louis; Wilkinson, John; Taïeb, Alain; Barrandon, Yann; Harper, John I.; de Prost, Yves


Book ID
109828259
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
196 KB
Volume
25
Category
Article
ISSN
1061-4036

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We report for the first time that CHILD syndrome (MIM 308050), an X-linked dominant, male-lethal trait characterized by an inflammatory nevus with striking lateralization and strict midline demarcation, as well as ipsilateral hypoplasia of the body is caused by mutations in the gene NSDHL located at