A Novel Compound Heterozygous Mutation of HSD17B3 Gene Identified in a Patient With 46,XY Difference of Sexual Development.

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作者： Carlotta,Cocchetti ^[1] ; Fulvia,Baldinotti ^[2] ; Alessia,Romani ^[1] ; Jiska,Ristori ^[1] ; Francesca,Mazzoli ^[1] ; Linda,Vignozzi ^[1] ; Mario,Maggi ^[3] ; Alessandra Daphne,Fisher ^[4]

作者单位： Andrology, Women's Endocrinology and Gender Incongruence Unit, Florence University Hospital, Florence, Italy. ^[1] Laboratory of Molecular genetics, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy. ^[2] Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy. ^[3] Andrology, Women's Endocrinology and Gender Incongruence Unit, Florence University Hospital, Florence, Italy. Electronic address: fishera@aou-careggi.toscana.it. ^[4]

关键词 17β-Hydroxysteroid Dehydrogenase Type 3 DSD Differences of Sexual Development Gender Identity GnRH Analogues

DOI 10.1016/j.esxm.2022.100522

PMID 35588601

发布时间 2022-08-20

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Sexual medicine

2022年10卷4期

100522页

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A Novel Compound Heterozygous Mutation of HSD17B3 Gene Identified in a Patient With 46,XY Difference of Sexual Development.

Sexual medicine

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Sexual medicine

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A Novel Compound Heterozygous Mutation of HSD17B3 Gene Identified in a Patient With 46,XY Difference of Sexual Development.

Sexual medicine

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Sexual medicine

相关期刊

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