Mutations in the gene encoding 3β- hydroxysteroid-Δ8,Δ7- isomerase cause X-linked dominant Conradi-Hünermann syndrome-Reference-Cited by-同舟云学术

Mutations in the gene encoding 3β- hydroxysteroid-Δ8,Δ7- isomerase cause X-linked dominant Conradi-Hünermann syndrome

Published:1999-07 Issue:3 Volume:22 Page:291-294
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Braverman Nancy,Lin Paul,Moebius Fabian F.,Obie Cassandra,Moser Ann,Glossmann Hartmut,Wilcox William R.,Rimoin David L.,Smith Moyra,Kratz Lisa,Kelley Richard I.,Valle David

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng0799_291.pdf

Reference25 articles.

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2. Happle, R. X-linked dominant chondrodysplasia punctata/ichthyosis/cataract syndrome in males. Am. J. Med. Genet. 57, 493 (1995).

3. Sutphen, R., Amar, M.J., Kousseff, B.G. & Toomey, K.E. XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome). Am. J. Med. Genet. 57, 489– 492 (1995).

4. Kelley, R.I. et al. Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata. Am. J. Med. Genet. 83, 213–219 (1999).

5. Hanner, M. et al. Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression. J. Biol. Chem. 270, 7551–7557 (1995).

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