GENETIC TESTING AND MOLECULAR BIOMARKERS, vol.26, no.1, pp.37-42, 2022 (SCI-Expanded)
Article / Article
GENETIC TESTING AND MOLECULAR BIOMARKERS
Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, Biotechnology Research Abstracts, CAB Abstracts, EMBASE, MEDLINE
intellectual disability, short stature, small head, developmental delay, speech apraxia, MUTATIONS, EVOLUTION, GENE
Istanbul Technical University Affiliated:
Aims: Autosomal recessive primary microcephaly (MCPH) is a clinically rare and genetically highly heterogeneous developmental disorder. Biallelic variants in the abnormal spindle-like microcephaly-associated (ASPM) gene account for 40% to 68% of all MCPH cases. This study was designed to elucidate the genetic basis of MCPH in an extended family To highlight recurrent mutations useful in implementing genetic testing programs, we further aimed to carry out a descriptive review of the reported ASPM mutations.