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

BACKGROUND: 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 thereby important for the initiation and elongation of the replication...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Neurogenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9046757/
https://www.ncbi.nlm.nih.gov/pubmed/34059554
http://dx.doi.org/10.1136/jmedgenet-2020-107518

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9046757/
https://www.ncbi.nlm.nih.gov/pubmed/34059554
http://dx.doi.org/10.1136/jmedgenet-2020-107518

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