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Article

A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.

Clinical dysmorphology - 1 Apr 2015

Karaer Kadri, Yuksel Zafer, Ichkou Amale, Calisir Cuneyt, Attié-Bitach Tania

Abstract excerpt

Acrocallosal syndrome (ACLS) is a rare genetic disorder typically characterized by craniofacial dysmorphism, agenesis, or hypoplasia of the corpus callosum, and duplication of the phalanges of halluces and/or the thumbs. ACLS is a recessive ciliopathy caused by mutations in KIF7. We identified a Turkish family who had a novel homozygous sequence change, c.2593-2A>C, located at the acceptor splice site of intron...

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Source

Identifiers

PMID: 25714560
DOI: 10.1097/MCD.0000000000000080

Genes

KIF7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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