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Article

Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia.

Journal of medical genetics - 20 Feb 2026

Seese Sarah E, Reis Linda M, Schneider Adele, Bardakjian Tanya, Semina Elena V

Abstract excerpt

Despite the identification of many genes involved in developmental eye phenotypes, a large percentage of families lack genetic diagnoses, suggesting novel mechanisms remain to be discovered. Large deletions of 16p11.2, 3p14 or 19p13.11 regions involving transcription factors MAZ, FOXP1 and SIN3B, correspondingly, along with other genes, have been previously reported in individuals with neurodevelopmental and...

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Share to Chromosomes, Human, Pair 16
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41339071
DOI: 10.1136/jmg-2025-111125
PMCID: PMC12851817

Genes

FOXP1
MAZ
SIN3B

Provenance

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

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