Mutations in the NSDHL gene, encoding a
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K๏ฟฝnig, Arne; Happle, Rudolf; Bornholdt, Dorothea; Engel, Hartmut; Grzeschik, Kar
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Article
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2000
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John Wiley and Sons
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English
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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