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Article

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

Orphanet journal of rare diseases - 15 May 2012

Ali Bassam R, Silhavy Jennifer L, Akawi Nadia A, Gleeson Joseph G, Al-Gazali Lihadh

Abstract excerpt

BACKGROUND: We previously reported the existence of a unique autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance mapping to chromosome 15q26. METHODS: In this manuscript, we have used whole exome sequencing on two affected members of a consanguineous family with this condition and carried out detailed bioinformatics analysis to elucidate the...

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Source

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Identifiers

PMID: 22587682
DOI: 10.1186/1750-1172-7-27
PMCID: PMC3492204

Genes

KIF7

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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