Article
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.
Human mutation - 1 Jun 2021
Dhooge Tibbe, Van Damme Tim, Syx Delfien, Mosquera Laura M, Nampoothiri Sheela, Radhakrishnan Anil, Simsek-Kiper Pelin O, Utine Gülen E, Bonduelle Maryse, Migeotte Isabelle, Essawi Osama, Ceylaner Serdar, Al Kindy Adila, Tinkle Brad, Symoens Sofie, Malfait Fransiska
Abstract excerpt
Brittle cornea syndrome (BCS) is a rare autosomal recessive disorder characterized by corneal thinning and fragility, leading to corneal rupture, the main hallmark of this disorder. Non-ocular symptoms include not only hearing loss but also signs of connective tissue fragility, placing it in the Ehlers-Danlos syndrome (EDS) spectrum. It is caused by biallelic pathogenic variants in ZNF469 or PRDM5, which...
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