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Updated: Feb 14, 2026

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病原性RNF113A変異を有する双子は,丸回帰症候群を呈している

Ortal Resnick1, Giovanna Beauchamp1

  • 1Division of Pediatric Endocrinology and Diabetes, University of Alabama at Birmingham, Birmingham, AL 35233, USA.

JCEM case reports
|February 13, 2026
PubMed
まとめ

希少なX関連RNF113A疾患は,神経発達および内分泌の問題を引き起こします. この研究は,特定のRNF113A変異を46,XY双子の一貫した症状に結びつけ,それは回帰症候群を含む.

キーワード:
性発達障害 性的発達障害甲状腺機能低下症 甲状腺機能低下症回帰症候群 (testicular regression syndrome) とは,回帰症候群 (testicular regression syndrome) とは,回帰症候群 (testicular regression syndrome) とは,回帰症候群 (testicular regression syndrome) とは,回帰症候群 (testicular regression syndrome) とは,回帰症候群 (testicular regression syndrome) とは,回帰症候群 (testicular regression syndrome) とは,回帰症候群 (testicular regression syndrome) とは,回帰症候群 (testicular regression syndrome) とは,回帰症候群 (testicular regression syndrome) とは,回帰症候群 (testicular regression syndrome) とは,回帰症候群 (testicular regression syndrome) とは,回帰症候群 (testicular regression syndrome) とは,回帰症候群 (testicular regression syndrome) とは,回帰症候群 (testicularトリコチオジストロフィー (trichothiodystrophy) とは,トリコチオジストロフィー (trichothiodystrophy) とは,トリコチオジストロフィー (trichothiodystrophy) とは,トリコチオジストロフィー (trichothiodystrophy) とは,トリコチオジストロフィー (trichothiodystrophy) とは,トリコチオジストロフィー (trichothiodystrophy) とは,トリコチオジストロフィー (trichothiodystrophy) とは,トリコチオジストロフィー (trichothiodystrophy) とは,トリコチオジストロフィー (trichothiodystrophy) とは,失踪する丸全エクソームシーケンシング

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