Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family-Reference-Cited by-同舟云学术

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

Published:2020-10-27 Issue:1 Volume:23 Page:
ISSN:1099-498X
Container-title:The Journal of Gene Medicine
language:en
Short-container-title:J Gene Med

Author:

Khan Muhammad Ismail¹,Latif Muhammad²^ORCID,Saif Maria³,Ahmad Hilal³,Khan Atta Ullah⁴,Naseer Muhammad Imran⁵⁶^ORCID,Hussain Hafiz Muhammad Jafar⁷^ORCID,Jelani Musharraf³^ORCID

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. Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences King Abdulaziz University Jeddah Saudi Arabia

7. Institute of Nephrology, Ruijin Hospital, School of Medicine Shanghai Jiao Tong University Shanghai China

Funder

Higher Education Commission, Pakistan

Publisher

Wiley

Subject

Genetics(clinical),Drug Discovery,Genetics,Molecular Biology,Molecular Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jgm.3279

Reference25 articles.

1. Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease

2. Joubert syndrome and related disorders

3. Joubert syndrome: congenital cerebellar ataxia with the molar tooth

4. The Ciliopathies: An Emerging Class of Human Genetic Disorders

5. CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa

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