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Article

De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.

American journal of medical genetics. Part A - 1 Jun 2016

Stokman Marijn F, Oud Machteld M, van Binsbergen Ellen, Slaats Gisela G, Nicolaou Nayia, Renkema Kirsten Y, Nijman Isaac J, Roepman Ronald, Giles Rachel H, Arts Heleen H, Knoers Nine V A M, van Haelst Mieke M

Abstract excerpt

We report an 11-year-old girl with mild intellectual disability, skeletal anomalies, congenital heart defect, myopia, and facial dysmorphisms including an extra incisor, cup-shaped ears, and a preauricular skin tag. Array comparative genomic hybridization analysis identified a de novo 4.5-Mb microdeletion on chromosome 14q24.2q24.3. The deleted region and phenotype partially overlap with previously reported...

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Share to Abnormalities, Multiple
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26892345
DOI: 10.1002/ajmg.a.37598

Genes

IFT43

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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De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.PMID 26892345Read ↗

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