Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.

Authors:
Köhler B; Lin L; Ferraz-de-Souza B; Wieacker P; Heidemann P and 5 more

Journal:
Hum Mutat

Publication Year: 2008

DOI:
10.1002/humu.20588

PMCID:
PMC2359628

PMID:
17694559

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Journal Information

Full Title: Hum Mutat

Abbreviation: Hum Mutat

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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Evidence found in paper:

"We are grateful to the patients and families, members of the network, Daniel Kelberman, Ron Evans, Meera Ramayya, J. Larry Jameson, and Masafumi Ito for technical support and vectors. B.K. holds a grant from the Bundesministerium für Bildung und Forschung (BMBF) Network of Disorders of Sex Development (01GM0311) and J.C.A. holds a Wellcome Trust Senior Research Fellowship in Clinical Science (079666). Research at the Institute of Child Health and Great Ormond Street Hospital for Children National Health Service (NHS) Trust benefits from R&D funding received from the NHS Executive."

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Last Updated: Aug 05, 2025