CHILD: Difference between revisions

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Latest revision as of 15:05, 4 September 2012

CHILD syndrome (or congenital hemidysplasia with ichthyosiform erythroderma and limb defects) is a genetic disorder.

The acronym was introduced in 1980.^[1]

It has been associated with NSDHL.^[2]

It is inherited in an X-linked dominant fashion.^[3]

↑ Happle R, Koch H, Lenz W (1980). "The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects". Eur. J. Pediatr. 134 (1): 27–33. PMID 7408908. Unknown parameter |month= ignored (help)
↑ König A, Happle R, Bornholdt D, Engel H, Grzeschik KH (2000). <339::AID-AJMG15>3.0.CO;2-5 "Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome". Am. J. Med. Genet. 90 (4): 339–46. PMID 10710235. Unknown parameter |month= ignored (help)
↑ "CHILD syndrome - Genetics Home Reference".

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