Associated Papers
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.
Dhooge T et al.
Human Mutation, 2021
The Ehlers-Danlos syndromes, rare types.
Brady AF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome.
Micheal S et al.
Cornea, 2016
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
Burkitt Wright EMM et al.
American Journal of Human Genetics, 2011
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