A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia-Reference-Cited by-同舟云学术

A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia

Published:2012-04 Issue:4 Volume:28 Page:231-235
ISSN:1607-551X
Container-title:The Kaohsiung Journal of Medical Sciences
language:en
Short-container-title:The Kaohsiung Journal of Medical Sciences

Author:

Tsai Meng-Che,Chou Yen-Yin,Lin Shio-Jean,Tsai Li-Ping

Publisher

Wiley

Subject

General Medicine

Reference23 articles.

1. Steroid 5α-reductase 2 deficiency;Wilson;Endocr Rev,1993

2. Phenotypic classification of male pseudohermaphroditism due to steroid 5 alpha-reductase 2 deficiency;Sinnecker;Am J Med Genet,1996

3. Phenotypic variation in a family with partial androgen insensivity syndrome explained by differences in 5α dihydrotestosterone availability;Boehmer;J Clin Endocrinol Metab,2001

4. LWPES/ESPE Consensus Group. Consensus statement on management of intersex disorder;Hughes;Arch Dis Child,2006

5. Androgen and male physiology the syndrome of 5α-reductase-2 deficiency;Imperato-McGinley;Mol Cell Endocrinol,2002

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