Articles with "fgf9 variant" as a keyword



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FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination

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Published in 2022 at "Clinical Genetics"

DOI: 10.1111/cge.14261

Abstract: 46,XY gonadal dysgenesis (GD) is a Disorder/Difference of Sex Development (DSD) that can present with phenotypes ranging from ambiguous genitalia to complete male‐to‐female sex reversal. Around 50% of 46,XY DSD cases receive a molecular diagnosis.… read more here.

Keywords: patient; determination; sex; fgf9 ... See more keywords