Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.

Clinical genetics - 1 Dec 2011

Bhat V, Girimaji S C, Mohan G, Arvinda H R, Singhmar P, Duvvari M R, Kumar A

Abstract excerpt

Primary microcephaly is an autosomal recessive disorder characterized by smaller than normal brain size and mental retardation. It is genetically heterogeneous with seven loci: MCPH1-MCPH7. We have previously reported genetic analysis of 35 families, including the identification of the MCPH7 gene...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Nucleus
Share to Centrosome
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fluorescent Antibody Technique

Share to Hep G2 Cells

Share to Lissencephaly

Share to Microcephaly

Source

Identifiers

PMID: 21496009
DOI: 10.1111/j.1399-0004.2011.01686.x

Genes

MCPH1
STIL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21496009-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.PMID 21496009Read ↗

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation.Semantic proximity Read ↗

Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly.Semantic proximity Read ↗

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene.Semantic proximity Read ↗

Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2.Semantic proximity Read ↗

Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.Semantic proximity Read ↗

A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.Semantic proximity Read ↗

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.Semantic proximity Read ↗

Whole-exome sequencing reveals a novel variant in two Iranian families with autosomal recessive primary microcephaly.Semantic proximity Read ↗

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.Semantic proximity Read ↗

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly.Semantic proximity Read ↗

Molecular genetics of human primary microcephaly: an overview.Semantic proximity Read ↗

Microcephaly-associated WDR62 mutations hamper Golgi apparatus-to-spindle pole shuttling in human neural progenitorsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.