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
A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing
β Scribed by M. Saito; A. Ishiko
- Book ID
- 108670262
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 467 KB
- Volume
- 159
- Category
- Article
- ISSN
- 0007-0963
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