A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement
Author:
Publisher
Elsevier BV
Subject
Dermatology
Reference10 articles.
1. Mutations in the NSDHL gene, encoding a 3β-hydroxysteroid dehydrogenase, cause CHILD syndrome;König;Am J Med Genet,2000
2. The gene mutated in bare patches and striated mice encodes a novel 3β-hydroxysteroid dehydrogenase;Liu;Nat Genet,1999
3. The CHILD syndrome: congenital hemidysplasia with ichthyosiform erythroderma and limb defects;Happle;Eur J Pediatr,1980
4. Systematized inflammatory epidermal nevus with symmetrical involvement: an unusual case of CHILD syndrome?;Fink-Puches;J Am Acad Dermatol,1997
5. CHILD syndrome caused by deficiency of 3β-hydroxysteroid-Δ8, Δ7-isomerase;Grange;Am J Med Genet,2000
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