Open AccessWhole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani families
Author(s) -
Ehtisham Ul Haq Makhdoom,
Haseeb Anwar,
Shahid Mahmood Baig,
Ghulam Hussain
Publication year - 2021
Publication title -
pakistan journal of medical sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.316
H-Index - 30
eISSN - 1682-024X
pISSN - 1681-715X
DOI - 10.12669/pjms.38.1.4464
Subject(s) - exome sequencing , genetics , sanger sequencing , microcephaly , proband , consanguinity , medicine , nonsense mutation , mutation , genetic heterogeneity , intellectual disability , gene , biology , missense mutation , phenotype