Article
Hearing Outcomes in Stickler Syndrome: Variation Due to COL2A1 and COL11A1.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Aug 2022
Bath Fadlullah, Swanson Dan, Zavala Hanan, Chinnadurai Siva, Roby Brianne B
Abstract excerpt
OBJECTIVES: Stickler syndrome (SS) is a heterogeneous inherited connective tissue disorder, often due to a mutation in COL2A1 or COL11A1. Mutations in these genes cause collagen abnormalities affecting ocular, auditory, orofacial, and skeletal systems, including hearing loss, micrognathia, and cleft palate. Understanding the variability of hearing phenotypes based on genetic mutation has a significant impact on...
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