Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family.

Naseer, Muhammad I

Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family. [electronic resource] - Neurosciences (Riyadh, Saudi Arabia) Oct 2018 - 347-350 p. digital

Publication Type: Case Reports; Journal Article

1319-6138

10.17712/nsj.2018.4.20180095 doi


Adult
Cell Cycle Proteins
Child
Cytoskeletal Proteins
Female
Heterozygote
Humans
Male
Microcephaly--genetics
Mutation, Missense
Nerve Tissue Proteins--chemistry
Pedigree
Protein Domains