Novel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos
Japanese Journal of Ophthalmology, 05/14/2012
Matsushita I et al. – 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.