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Article

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

Orphanet journal of rare diseases - 14 Nov 2013

Farag Heba Gamal, Froehler Sebastian, Oexle Konrad, Ravindran Ethiraj, Schindler Detlev, Staab Timo, Huebner Angela, Kraemer Nadine, Chen Wei, Kaindl Angela M

Abstract excerpt

BACKGROUND: Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disease with severe microcephaly at birth due to a pronounced reduction in brain volume and intellectual disability. Biallelic mutations in the WD repeat-containing protein 62 gene WDR62 are the genetic cause of MCPH2. However, the exact underlying pathomechanism of MCPH2 remains to be clarified. METHODS/RESULTS: We...

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PMID: 24228726
DOI: 10.1186/1750-1172-8-178
PMCID: PMC4225825

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Source receipt: pubmed, retrieved 7 Sept 2026.

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