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A Pedigree With LHX4 and SOX3 Gene Variants Resulting in Gonadal Dysplasia

ABSTRACT Pituitary stalk interruption syndrome is a disease with multiple hormone deficiencies caused by pituitary stalk interruption. Identification of the pathogenic gene variant is helpful for early diagnosis. Early hormone replacement therapy is helpful to improve the prognosis and quality of li...

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Autors principals: Zhaoyang Ji, Wenyuan Duan, Jianbo Wu, Mengting Dai, Ping Chen, Jialu Luo, Mingzhi Xu
Format: Artigo
Idioma:Inglês
Publicat: Wiley 2025-02-01
Col·lecció:Clinical Case Reports
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Accés en línia:https://doi.org/10.1002/ccr3.70118
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