Ocular manifestations of PACS1 mutation.

doi:10.1016/j.jaapos.2017.12.008

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Article

Ocular manifestations of PACS1 mutation.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Aug 2018

Pefkianaki Maria, Schneider Adele, Capasso Jenina E, Wasserman Barry N, Bardakjian Tanya, Levin Alex V

Abstract excerpt

Heterozygous mutation in the PACS1 (phosphofurin acidic cluster sorting proteins 1) gene is a known cause of developmental delay, multiple congenital anomalies, dysmorphism, and ocular abnormalities. We present the case of an affected 10-year-old girl, conceived by assisted reproductive technology, who has ocular coloboma and findings characteristic of PACS1 mutation.

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Identifiers

PMID: 29550517
DOI: 10.1016/j.jaapos.2017.12.008

Genes

PACS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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