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Article

Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11.

JAMA ophthalmology - 1 Jun 2015

Mears Katrina, Bakall Benjamin, Harney Lisa A, Penticoff Jessica A, Stone Edwin M

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25764055
DOI: 10.1001/jamaophthalmol.2015.199

Genes

KIF11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11.PMID 25764055Read ↗

KIF11 Variants Associated With Novel Renal System Involvement-Two Cases That Expand the Phenotypic Spectrum of Microcephaly With or Without Chorioretinopathy, Lymphedema, or Impaired Intellectual Development.Semantic proximity Read ↗

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.Semantic proximity Read ↗

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

KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disabilitySemantic proximity Read ↗

KIF11 Mutation with Congenital Microcephaly and Chorioretinal Lacunae.Semantic proximity Read ↗

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation associated with KIF11 pathogenic variant: case report and genotype-phenotype correlation analysis.Semantic proximity Read ↗

Ophthalmic Manifestations of KIF11-Associated Microcephaly With or Without Chorioretinopathy, Lymphedema, or Intellectual Disability: A Case Report of a Novel Variant.Semantic proximity Read ↗

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.Semantic proximity Read ↗

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.Semantic proximity Read ↗

Insights into <i>KIF11</i> pathogenesis in Microcephaly-Lymphedema-Chorioretinopathy syndrome: a lymphatic perspectiveSemantic proximity Read ↗

Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.Semantic proximity Read ↗

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- The new lacunae: A case reportSemantic proximity Read ↗

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