An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan
巴基斯坦32个近亲结婚家庭中ASPM、WDR62、CDK5RAP2、STIL、CENPJ和CEP135致病变异的最新研究结果，这些变异与常染色体隐性遗传原发性小头畸形有关
期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.1408
Rasool, Sajida; Baig, Jamshaid Mahmood; Moawia, Abubakar; Ahmad, Ilyas; Iqbal, Maria; Waseem, Syeda Seema; Asif, Maria; Abdullah, Uzma; Makhdoom, Ehtisham Ul Haq; Kaygusuz, Emrah; Zakaria, Muhammad; Ramzan, Shafaq; Haque, Saif Ul; Mir, Asif; Anjum, Iram; Fiaz, Mehak; Ali, Zafar; Tariq, Muhammad; Saba, Neelam; Hussain, Wajid; Budde, Birgit; Irshad, Saba; Noegel, Angelika Anna; Höning, Stefan; Baig, Shahid Mahmood; Nürnberg, Peter; Hussain, Muhammad Sajid
