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Article

Primary microcephaly with anterior predominant pachygyria caused by novel compound heterozygous mutations in ASPM.

Pediatric neurology - 1 May 2015

Nakamura Kazuyuki, Inui Takehiko, Miya Fuyuki, Kanemura Yonehiro, Okamoto Nobuhiko, Saitoh Shinji, Yamasaki Mami, Tsunoda Tatsuhiko, Kosaki Kenjiro, Tanaka Soichiro, Kato Mitsuhiro

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25765464
DOI: 10.1016/j.pediatrneurol.2015.01.019

Genes

ASPM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Primary microcephaly with anterior predominant pachygyria caused by novel compound heterozygous mutations in ASPM.PMID 25765464Read ↗

Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.Semantic proximity Read ↗

Primary autosomal recessive microcephaly: a novel clinical phenotype.Semantic proximity Read ↗

Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly.Semantic proximity Read ↗

Autosomal recessive primary microcephaly due to ASPM mutations: An update.Semantic proximity Read ↗

The molecular landscape of ASPM mutations in primary microcephaly.Semantic proximity Read ↗

CO-OCCURRENCE OF PRIMARY MICROCEPHALY CAUSED BY A NOVEL HOMOZYGOUS ASPM MUTATION ALONG WITH X-LINKED ICHTHYOSIS IN THE SAME PATIENT.Semantic proximity Read ↗

A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family.Semantic proximity Read ↗

[Genetic analysis of a child with autosomal recessive primary microcephaly due to variant of ASPM gene and a literature review].Semantic proximity Read ↗

Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary MicrocephalySemantic proximity Read ↗

Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.Semantic proximity Read ↗

Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.Semantic proximity Read ↗

A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.Semantic proximity Read ↗

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