Novel neuroclinical findings of autosomal recessive primary microcephaly 15 in a consanguineous Iranian family
Ehsan Razmara, Homeyra Azimi, Ali Reza Tavasoli, Elnaz Fallahi, Sadaf Valeh Sheida, Milad Eidi, Amirreza Bitaraf, Zahra Farjami, Mohammad Ali Daneshmand, Masoud Garshasbi
Topics & Concepts
MicrocephalyBiologyGeneticsCompound heterozygosityExome sequencingSanger sequencingPhenotypeMajor facilitator superfamilyMutationGeneMutantMitochondrial Function and PathologyMetabolism and Genetic DisordersAmino Acid Enzymes and Metabolism