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A Hemizygous MED12 Variant in Three Brothers with Hypomasculinized Genitalia and Additional Clinical Features: A Case

Nobuhiko Koga1, Yuko Katoh-Fukui1, Michihiko Aramaki1

  • 1Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

Hormone Research in Paediatrics
|January 22, 2026
PubMed
Abstract

Keywords:
Disorders/differences of sex developmentGenetic diseaseMutationSyndromeWhole-exome sequencing

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