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Article

A novel single base pair duplication in WDR62 causes primary microcephaly.

BMC medical genetics - 11 Oct 2014

Rupp Verena, Rauf Sobiah, Naveed Ishrat, Windpassinger Christian, Mir Asif

Abstract excerpt

BACKGROUND: Primary microcephaly is a disorder of the brain resulting in a reduced head circumference that can come along with intellectual disability but with hardly any other neurological abnormalities. CASE PRESENTATION: In this study we report on three Pakistani males from a consanguineous family with 2, 4 and 25 years, diagnosed with autosomal recessive primary microcephaly. By genotyping, Sanger sequencing...

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Share to Microcephaly
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Chromosomes, Human, Pair 19

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Source

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Identifiers

PMID: 25303973
DOI: 10.1186/s12881-014-0107-4
PMCID: PMC4258795

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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.

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A novel single base pair duplication in WDR62 causes primary microcephaly.PMID 25303973Read ↗

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