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Article

SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management.

Clinical genetics - 1 Jul 2017

Colson C, Aubry E, Cartigny M, Rémy A-A, Franquet H, Leroy X, Kéchid G, Lefèvre C, Besson R, Cools M, Spinoit A F, Sultan C, Manouvrier S, Philibert P, Ghoumid J

Abstract excerpt

Steroidogenic factor 1 (encoded by SF1/NR5A1) is a transcription factor with multiple target genes involved in the development and function of multiple steroidogenic and non-steroidogenic tissues. NR5A1 mutations lead to several phenotypes, including sex reversal, spermatogenesis failure, premature ovarian failure and adrenocortical insufficiency. The implication of NR5A1 mutations in spleen development anomalies...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 28032338
DOI: 10.1111/cge.12957

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