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Article

Variability in expression of a familial 2.79 Mb microdeletion in chromosome 14q22.1-22.2.

American journal of medical genetics. Part A - 1 Jun 2012

Lumaka Aimé, Van Hole Christine, Casteels Ingele, Ortibus Els, De Wolf Veerle, Vermeesch Joris R, Lukusa Tshilobo, Devriendt Koen

Abstract excerpt

Deletions in chromosome 14q22-23 have been associated with variable manifestations including malformations of the eye, limbs, palate, and brain, and with developmental and growth delay. Haploinsufficiency of BMP4, OTX2 and possibly SIX6 are thought to contribute to the phenotype. We present a three generation family with four individuals carrying a 2.79 Mb microdeletion 14q22.1-22.2 encompassing BMP4 but not OTX2...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22581619
DOI: 10.1002/ajmg.a.35353

Genes

BMP4
OTX2
SIX6

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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