Novel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos

Japanese Journal of Ophthalmology, 05/14/2012

A 9–year–old girl with posterior microphthalmos underwent a standard ophthalmological examination and genetic screening by direct sequencing. Posterior microphthalmos can be caused by nonsense compound heterozygous mutations in the membrane–type frizzled–related protein gene.

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