Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family

Authors:	Muhammad Ismail Khan Muhammad Latif Maria Saif Hilal Ahmad Atta Ullah Khan Muhammad Imran Naseer Hafiz Muhammad Jafar Hussain Musharraf Jelani

Affiliation:	1. Department of Zoology, Islamia College Peshawar, Peshawar, Khyber Pakhtunkhwa, Pakistan;2. Centre for Genetics and Inherited Diseases (CGID), Taibah University, Al-Madinah, Al-Munawwarah, Saudi Arabia;3. Centre for Omic Sciences, Islamia College Peshawar, Peshawar, Khyber Pakhtunkhwa, Pakistan;4. Department of Medicine, Pak International Medical College Phase 5, Hayatabad Peshawar, Khyber Pakhtunkhwa, Pakistan;5. Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia;6. Institute of Nephrology, Ruijin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Abstract:

Keywords:	CC2D2A Joubert syndrome novel homozygous variant Pakhtun population WES analysis