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CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder

โœ Scribed by GP Avgerinou; AP Asvesti; AD Katsambas; VA Nikolaou; EC Christofidou; KH Grzeschik; R Happle

Book ID
111098098
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
365 KB
Volume
24
Category
Article
ISSN
0926-9959

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โœ K๏ฟฝnig, Arne; Happle, Rudolf; Bornholdt, Dorothea; Engel, Hartmut; Grzeschik, Kar ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 98 KB ๐Ÿ‘ 2 views

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