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
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM3_ESM.xlsx › Table_S2
Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome.
Micheal S et al.
Cornea, 2016
A novel mutation in PRDM5 in brittle cornea syndrome.
Aldahmesh MA et al.
Clinical Genetics, 2012
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