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Article

A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family.

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

Hazan Filiz, Ostergaard Pia, Ozturk Taylan, Kantekin Esin, Atlihan Fusun, Jeffery Steve, Ozkinay Ferda

Abstract excerpt

Microcephaly-lymphedema-chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a long philtrum with a pointed chin. Recently, mutations in KIF11 have been demonstrated to cause dominantly inherited MLCRD syndrome. Herein, we present a patient...

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Source

Identifiers

PMID: 22653704
DOI: 10.1002/ajmg.a.35371

Genes

KIF11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family.PMID 22653704Read ↗

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