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Article

SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism.

Endocrine journal - 30 Aug 2017

Shima Hirohito, Ishii Akira, Wada Yasunori, Kizawa Junya, Yokoi Tadashi, Azuma Noriyuki, Matsubara Yoichi, Suzuki Erina, Nakamura Akie, Narumi Satoshi, Fukami Maki

Abstract excerpt

Hypogonadotropic hypogonadism (HH) is a genetically heterogeneous condition that occurs either as an isolated disorder or as a component of congenital malformation syndromes. SOX2 is a causative gene of syndromic HH characterized by anophthalmia, microphthalmia, or coloboma and other neurological defects such as epilepsy. To date, the causal relationship between SOX2 abnormalities and non-syndromic HH remains...

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Source

Identifiers

PMID: 28659543
DOI: 10.1507/endocrj.EJ17-0078

Genes

SOX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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