Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis-Reference-Cited by-同舟云学术

Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis

Published:2004 Issue:3 Volume:128A Page:223-231
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Shackleton Cedric,Marcos Josep,Malunowicz Ewa M.,Szarras-Czapnik Maria,Jira Petr,Taylor Norman F.,Murphy Nuala,Crushell Ellen,Gottschalk Michael,Hauffa Berthold,Cragun Deborah L.,Hopkin Robert J.,Adachi Masanori,Arlt Wiebke

Publisher

Wiley

Subject

Genetics (clinical)

Reference24 articles.

1. A Male Patient Presenting with Major Clinical Symptoms of Glucocorticoid Deficiency and Skeletal Dysplasia, showing a Steroid Pattern Compatible with 17.ALPHA.-Hydroxylase/ 17, 20-Lyase Deficiency, but without Obvious CYP 17 Gene Mutations.

2. Multiple malformation syndrome following fluconazole use in pregnancy: Report of an additional patient

3. TOWARDS A UNIFYING MECHANISM FOR CYP17 MUTATIONS THAT CAUSE ISOLATED 17, 20-LYASE DEFICIENCY

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