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A novel mutation in PRDM5 in brittle cornea syndrome.
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A novel mutation in PRDM5 in brittle cornea syndrome.
Aldahmesh MA, Mohamed JY, Alkuraya FS. A novel mutation in PRDM5 in brittle cornea syndrome. Clin Genet. 2012 Feb; 81(2):198-9.
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PubMed
subject areas
Child, Preschool
DNA-Binding Proteins
Ehlers-Danlos Syndrome
Eye Abnormalities
Female
Homozygote
Humans
Joint Instability
Mutation
Skin Abnormalities
Transcription Factors
authors with profiles
Fowzan Sami Alkuraya, M.B.,B.S.