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Article

OTX2 Syndromes.

Advances in experimental medicine and biology - 1 Jan 2025

Li Chloe, Tsang Stephen, Sharma Tarun, Diaconita Vlad

Abstract excerpt

Patients with OTX2 mutations have highly variable phenotypes, as the transcription factor is key in the development of retinal, pituitary gland, inner ear, and craniofacial structures. There are two recognized syndromes caused by OTX2 mutations: syndromic microphthalmia type 5 (MCOPS5), and combined pituitary hormone deficiency type 6 (CPHD6).

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Source

Identifiers

PMID: 40736845
DOI: 10.1007/978-3-031-72230-1_43

Genes

OTX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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