Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation
Abstract Background Stickler Syndrome is a rare connective tissue disorder, characterized by clinical, and genetic heterogeneity. The clinical expression is highly variable, including moderate to severe myopia in childhood, hearing loss, facial dysmorphic features, cleft palate, and early osteoarthr...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2020-09-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.1353 |