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Article

A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome.

Ophthalmic genetics - 1 Jan 2000

Ullah Asmat, Umair Muhammad, Ahmad Farooq, Muhammad Dost, Basit Sulman, Ahmad Wasim

Abstract excerpt

BACKGROUND: Waardenburg anophthalmia syndrome (WAS), also known as ophthalmo-acromelic syndrome or anophthalmia-syndactyly, is a rare congenital disorder that segregates in an autosomal recessive pattern. Clinical features of the syndrome include malformation of the eyes and the skeleton. Mostly, WAS is caused by mutations in the SMOC-1 gene. MATERIALS AND METHODS: The present report describes a large...

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Share to Chromosomes, Human, Pair 14
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28085523
DOI: 10.1080/13816810.2016.1227456

Genes

SMOC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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