Article
Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records.
Journal of medical genetics - 1 Dec 1992
Jay M, Bird A C, Moore A N, Jay B
Abstract excerpt
We present a nine generation family with autosomal dominant retinitis pigmentosa (ADRP). Evidence of blindness in the early generations, as obtained from census returns and clinical records, and examination of current patients show variable expressivity with a spectrum which ranges from asymptomatic in late life to blindness in the third decade of life. The family is not linked to any of the chromosomal locations...
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