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Article

Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia.

American journal of medical genetics. Part A - 1 Nov 2009

Solomon Benjamin D, Pineda-Alvarez Daniel E, Balog Joan Z, Hadley Donald, Gropman Andrea L, Nandagopal Radha, Han Joan C, Hahn Jin S, Blain Delphine, Brooks Brian, Muenke Maximilian

Abstract excerpt

We report on a patient with trisomy 21, microophthalmia, neonatal diabetes mellitus, hypopituitarism, and a complex structural brain anomaly who was a member of a large bilineal family with eye anomalies. The patient inherited a different mutation in PAX6 from each parent and is the only known living and second reported patient with compound heterozygosity for mutations in PAX6. PAX6 is a transcription factor...

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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: 19876904
DOI: 10.1002/ajmg.a.33081
PMCID: PMC2783496

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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