Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination

Molecular Genetics & Genomic Medicine

Nisha Patel¹  Mais Hashem¹  Firdous Abdulwahab¹  Rana Helaby¹  Lama AlAbdi²  Fowzan S. Alkuraya³  Arif O. Khan⁴  Fahad B. AlBadr⁵ 

[1]Department of Genetics, KFSHRC, Riyadh, Saudi Arabia

[2]Department of Genetics, KFSHRC, Riyadh, Saudi Arabia

[3]College of Science, King Saud University, Riyadh, Saudi Arabia

[4]Department of Genetics, KFSHRC, Riyadh, Saudi Arabia

[5]Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia

[6]Department of Genetics, KFSHRC, Riyadh, Saudi Arabia

[7]Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates

[8]Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western University, Cleveland, OH, USA

[9]Department of Radiology, College of Medicine, King Saud University, Riyadh, Saudi Arabia

关键词: cataract;    COL11A1;    COL2A1;    COL9A1;    Stickler syndrome;    vitreous;   

DOI  :  10.1002/mgg3.1628

来源: Wiley

【 授权许可】

CC BY