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Updated: May 23, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

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A de novo SOX11 mutation causing hypogonadotropic hypogonadism: a case report and literature review

Shanshan Chu1, Xuewen Yuan1, Qing Niu1

  • 1Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Nanjing Medical University, Guangzhou Road, Nanjing, 210008, Jiangsu, China.

BMC Pediatrics
|May 22, 2026
PubMed
Abstract

Keywords:
SOX11 geneCoffin-siris syndromeHypogonadotropic hypogonadismPhenotype

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