Article

Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadism

2024-01-17

Abstract excerpt

<title>Abstract</title> <p>Pathogenic SOX11 variants have been associated with intellectual developmental disorder with microcephaly, and with or without ocular malformations or hypogonadotropic hypogonadism (IDDMOH, OMIM # 615866). In this article, we report seven new patients with SOX11 variants, five of whom have features suggestive of hypogonadotropic hypogonadism (HH). The main clinical features included neu...

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Literature Corpus work: c8ab32bd-aa91-5b01-859b-f75c1d5c6106
DOI: 10.21203/rs.3.rs-3693465/v1

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