Article
A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1.
Human genetics - 1 Oct 2009
Hmani-Aifa Mounira, Ben Salem Salma, Benzina Zeineb, Bouassida Walid, Messaoud Riadh, Turki Khalil, Khairallah Moncef, Rebaï Ahmed, Fakhfekh Faïza, Söderkvist Peter, Ayadi Hammadi
Abstract excerpt
Posterior microphthalmia (PM) is a relatively rare autosomal recessive condition with normal anterior segment and small posterior segment resulting in high hyperopia and retinal folding. It is an uncommon subtype of microphthalmia that has been mostly reported to coexist with several other ophthalmic conditions and to occur in sporadic cases. The membrane-type frizzled-related protein (MFRP) is the only gene so...
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