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AUTOSOMAL RECESSIVE MICROCEPHALY, MENTAL-RETARDATION WITH NONPIGMENTARY RETINOPATHY AND A DISTINCTIVE ELECTRORETINOGRAM NEUROPEDIATRICS Harbord, M. G., Lambert, S. R., Kriss, A., Brett, E. M., Baraitser, M., Supramaniam, G. 1989; 20 (3): 139-141
Abstract
The association of microcephaly and mental retardation with a non-pigmentary retinopathy is described in three siblings of consanguineous parents. The electroretinogram showed the distinctive appearance of markedly attenuated "b" wave but normal "a" wave suggestive of a retinal dystrophy primarily affecting post-receptoral elements in the inner retina. This appears to be an autosomal recessive condition which has not been previously reported.
View details for Web of Science ID A1989AN16500003
View details for PubMedID 2779741