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Article

Proteome changes in autosomal recessive primary microcephaly.

Annals of human genetics - 1 Mar 2023

Zaqout Sami, Mannaa Atef, Klein Oliver, Krajewski Angelika, Klose Joachim, Luise-Becker Lena, Elsabagh Ahmed, Ferih Khaled, Kraemer Nadine, Ravindran Ethiraj, Makridis Konstantin, Kaindl Angela M

Abstract excerpt

BACKGROUND/AIM: Autosomal recessive primary microcephaly (MCPH) is a rare and genetically heterogeneous group of disorders characterized by intellectual disability and microcephaly at birth, classically without further organ involvement. MCPH3 is caused by biallelic variants in the cyclin-dependent kinase 5 regulatory subunit-associated protein 2 gene CDK5RAP2. In the corresponding Cdk5rap2 mutant or Hertwig's...

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PMID: 36448252
DOI: 10.1111/ahg.12489

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