A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency.

Correa RV, Domenice S, Bingham NC, Billerbeck AE, Rainey WE, Parker KL, Mendonca BB
J Clin Endocrinol Metab. 2004 89 (4): 1767-72

PMID: 15070943 · DOI:10.1210/jc.2003-031240

MeSH Terms (18)

Adrenal Glands Adult Base Sequence Disorders of Sex Development DNA-Binding Proteins Female Fushi Tarazu Transcription Factors Gene Deletion Genes, Dominant Genitalia, Female Homeodomain Proteins Humans Ligands Mutation Receptors, Cytoplasmic and Nuclear Steroidogenic Factor 1 Transcription, Genetic Transcription Factors

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