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Article

The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18.

Human mutation - 1 Sept 2013

Aldahmesh Mohammed A, Alshammari Muneera J, Khan Arif O, Mohamed Jawahir Y, Alhabib Fatimah A, Alkuraya Fowzan S

Abstract excerpt

One of us recently described an apparently novel ocular syndrome characterized by microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) in a number of Saudi families. Consistent with the presumed pseudodominant inheritance in one of the original families, we show that MMCAT maps to a single autozygous locus on chr16q23.1 in which exome sequencing revealed a homozygous missense change in ADAMTS18....

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Source

Identifiers

PMID: 23818446
DOI: 10.1002/humu.22374

Genes

ADAMTS18

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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