Associated Papers
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Rasool S et al.
Molecular Genetics & Genomic Medicine, 2020
32677750 (PubMed )
Supplement: MGG3-8-e1408-s002.pdf
A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family.
Farooq M et al.
Journal of Human Genetics, 2016
Peri-implantation lethality in mice carrying megabase-scale deletion on 5qc3.3 is caused by Exoc1 null mutation.
Mizuno S et al.
Scientific Reports, 2015
Molecular genetics of human primary microcephaly: an overview.
Faheem M et al.
Bmc Medical Genomics, 2015
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.
Hussain MS et al.
American Journal of Human Genetics, 2012
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