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Congenital adrenal hypoplasia with neurodevelopmental delay due to contiguous Xp21 deletion: a case series with review of literature.

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第一作者： Maki,Gau

第一单位： Department of Life Science and Bioethics, Institute of Science Tokyo, Tokyo 113-8510, Japan.

作者： Maki,Gau ^[1] ; Ryosei,Iemura ^[2] ; Ryuta,Orimoto ^[3] ; Eriko,Adachi ^[3] ; Yoko,Saito ^[3] ; Haruki,Yamano ^[3] ; Hisae,Nakatani ^[3] ; Shizuka,Kirino ^[3] ; Haruka,Kuno ^[4] ; Kengo,Moriyama ^[3] ; Yohei,Yamaguchi ^[3] ; Yoshiki,Oitani ^[5] ; Manabu,Sugie ^[3] ; Tomoko,Mizuno ^[3] ; Taku,Ishii ^[3] ; Masayuki,Yoshida ^[1] ; Kenichi,Kashimada ^[6] ; Kei,Takasawa ^[3]

作者单位： Department of Life Science and Bioethics, Institute of Science Tokyo, Tokyo 113-8510, Japan. ^[1] Department of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo 113-8510, Japan.;Department of Pediatrics, Chiba Kaihin Municipal Hospital, Chiba 261-0012, Japan. ^[2] Department of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo 113-8510, Japan. ^[3] Department of Pediatrics, Japanese Red Cross Tokyo Katsushika Perinatal Center, Tokyo 125-0051, Japan. ^[4] Department of Pediatrics, Tokyo Women's Medical University Adachi Medical Center, Tokyo 123-8558, Japan. ^[5] Department of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo 113-8510, Japan.;Division of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo 157-8535, Japan. ^[6]

关键词 X-linked adrenal hypoplasia congenital Xp21 deletion syndromes

DOI 10.1507/endocrj.EJ25-0265

PMID 41285479

发布时间 2025-11-24

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