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

A case report: Autosomal recessive microcephaly caused by a novel mutation in MCPH1 gene.

Gene - 15 Oct 2015

Ghafouri-Fard Soudeh, Fardaei Majid, Gholami Milad, Miryounesi Mohammad

Abstract excerpt

Autosomal Recessive Primary Microcephaly (MCPH-MIM 251200) is distinguished by congenital decrease in occipito-frontal head circumference (OFC) of at least 2 standard deviations (SD) below population average in addition to non-progressive mental retardation, without any prominent neurological disorder. Mutations in MCPH1, which encodes the protein microcephalin have been detected in this disorder. Here we report...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to Cytoskeletal Proteins
Share to Family Health

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Introns

Share to Microcephaly

Share to RNA Splice Sites

Share to Sequence Homology, Nucleic Acid

Source

Identifiers

PMID: 26192461
DOI: 10.1016/j.gene.2015.07.058

Genes

MCPH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A case report: Autosomal recessive microcephaly caused by a novel mutation in MCPH1 gene.PMID 26192461Read ↗

A novel mutation in MCPH1 gene in an Iranian family with primary microcephaly.Semantic proximity Read ↗

Autosomal Recessive Primary Microcephaly (MCPH): An UpdateSemantic proximity Read ↗

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.Semantic proximity Read ↗

Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) using Next Generation Sequencing (NGS)Semantic proximity Read ↗

Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH)Semantic proximity Read ↗

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.Semantic proximity Read ↗

A Rare Cause of Primary Microcephaly: 4 New Variants in CDK5RAP2 Gene and Review of the Literature.Semantic proximity Read ↗

Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families.Semantic proximity Read ↗

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.Semantic proximity Read ↗

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

Refining the phenotype associated with CASC5 mutation.Semantic proximity Read ↗

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

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