Co-Occurrence of a Pathogenic <i>HSD3B2</i> Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia.

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作者： Simona,Mellone ^[1] ; Enrica,Bertelli ^[2] ; Barbara,Roviglione ^[2] ; Denise,Vurchio ^[1] ; Sara,Ronzani ^[3] ; Andrea,Secco ^[1] ; Enrico,Felici ^[2] ; Mariachiara Martina,Strozzi ^[2] ; Federico,Schena ^[4] ; Mara,Giordano ^[4]

作者单位： Laboratory of Genetics, Clinical Biochemistry Unit, University Hospital Maggiore della Carità, 28100 Novara, Italy. ^[1] Pediatric and Pediatric Emergency Unit, Children Hospital, Azienda Ospedaliera SS Antonio e Biagio e C. Arrigo, 15121 Alessandria, Italy. ^[2] Department of Health Sciences, Università del Piemonte Orientale, 28100 Novara, Italy. ^[3] Neonatal Intensive Care Unit, Azienda Ospedaliera SS Antonio e Biagio e C. Arrigo, 15121 Alessandria, Italy. ^[4]

关键词 HSD3B2 LCSH aCGH-SNP congenital adrenal hyperplasia

主题词女(雌)性(Female);人类(Humans);婴儿, 新生(Infant, Newborn);肾上腺增生, 先天性(Adrenal Hyperplasia, Congenital);孕酮还原酶(Progesterone Reductase);男性化(Virilism);双生(Twins)

DOI 10.3390/genes13122190

PMID 36553457

发布时间 2023-03-03

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准确一般字义偏差语意偏离译文作用小提交