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A unique point mutation in the NSDHL gene in a Japanese patient with CHILD syndrome

โœ Scribed by Murata, Kaoru; Shinkai, Hiroshi; Ishikiriyama, Satoshi; Yamazaki, Masaaki; Fukuzumi, Yasuhito; Hatamochi, Atsushi


Book ID
119561072
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
409 KB
Volume
33
Category
Article
ISSN
0923-1811

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Mutations in the NSDHL gene, encoding a
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