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

Dissecting the Genetic and Etiological Causes of Primary Microcephaly

15 Oct 2020

Abstract excerpt

Autosomal recessive primary microcephaly (MCPH; "small head syndrome") is a rare, heterogeneous disease arising from the decreased production of neurons during brain development. As of August 2020, the Online Mendelian Inheritance in Man (OMIM) database lists 25 genes (involved in molecular processes such as centriole biogenesis, microtubule dynamics, spindle positioning, DNA repair, transcriptional regulation,...

Read the complete abstract on PubMed

Topics

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

Share to Cancer-related Molecular Pathways
Share to Genetics and Neurodevelopmental Disorders
Share to Microtubule and mitosis dynamics

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 33178111
DOI: 10.3389/fneur.2020.570830

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 16 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dissecting the Genetic and Etiological Causes of Primary MicrocephalyPMID 33178111Read ↗

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

The Genetics of Primary Microcephaly.Semantic proximity Read ↗

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.Semantic proximity Read ↗

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

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

Many roads lead to primary autosomal recessive microcephaly.Semantic proximity Read ↗

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

Elucidating the Genetic Landscape, Phenotypic Spectrum, and Pathogenic Mechanisms in a Turkish Cohort with Primary Microcephaly.Semantic proximity Read ↗

Multifaceted Microcephaly-Related Gene MCPH1.Semantic proximity Read ↗

Congenital microcephaly.Semantic proximity Read ↗

What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH).Semantic proximity Read ↗

Molecular and cellular basis of autosomal recessive primary microcephaly.Semantic proximity Read ↗

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