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Article

A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles.

BMC research notes - 6 Nov 2017

Abu-Amero Khaled K, Kondkar Altaf A, Khan Arif O

Abstract excerpt

OBJECTIVE: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is known to be caused by mutations in KIF21A or TUBB3 or other known genes (SALL4, CHN1, HOXA1). However, affected children may harbor other genetic defects. Therefore, a candidate gene analysis (KIF21A, TUBB3 SALL4, CHN1, HOXA1) and a high-resolution array comparative genomic hybridization (arrayCGH) was performed in two unrelated children...

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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: 29110737
DOI: 10.1186/s13104-017-2888-y
PMCID: PMC5674732

Genes

CHN1
GRHL2
HOXA1
SALL4
TUBB3

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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