Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation inEBP-Reference-Cited by-同舟云学术

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Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation inEBP

Published:2002-12-26 Issue:3 Volume:116A Page:249-254
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Milunsky Jeff M.,Maher Thomas A.,Metzenberg Aida B.

Publisher

Wiley

Subject

Genetics (clinical)

Reference25 articles.

1. Identification of a novel mutation in 3β-hydroxysteroid-Δ8-Δ7-isomerase in a case of Conradi-Hünermann-Happle syndrome

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

3. Acute Skin Manifestations of Conradi-Huenermann Syndrome in a Male Adult

4. Lethal Course of X-Linked Dominant Chondrodysplasia punctata in a Male Newborn

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