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Article

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.

Journal of medical genetics - 1 Nov 2012

Putoux Audrey, Nampoothiri Sheela, Laurent Nicole, Cormier-Daire Valérie, Beales Philip L, Schinzel Albert, Bartholdi Deborah, Alby Caroline, Thomas Sophie, Elkhartoufi Nadia, Ichkou Amale, Litzler Julie, Munnich Arnold, Encha-Razavi Férechté, Kannan Rajesh, Faivre Laurence, Boddaert Nathalie, Rauch Anita, Vekemans Michel, Attié-Bitach Tania

Abstract excerpt

BACKGROUND: Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation. Recently, we identified mutations in KIF7, a key component of the Sonic hedgehog pathway, as being responsible for this syndrome. METHODS: We sequenced KIF7 in five suspected ACLS...

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Source

Identifiers

PMID: 23125460
DOI: 10.1136/jmedgenet-2012-101016

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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Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.PMID 23125460Read ↗

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