Browsing by Author "Ghazanfar, Ali"

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Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability

Ravindran, Ethiraj; Gutierrez de Velazco, Cynthia; Ghazanfar, Ali; Kraemer, Nadine; Zaqout, Sami; Waheed, Abdul; Hanif, Mohsan; Mughal, Sadia; Prigione, Alessandro; Li, Na; Fang, Xiang; Hu, Hao; Kaindl, Angela M... more authors ... less authors ( BMJ Publishing Group , 2021 , Article)
Minichromosomal maintenance (MCM) complex components 2, 4, 5 and 6 have been linked to human disease with phenotypes including microcephaly and intellectual disability. The MCM complex has DNA helicase activity and is ...