Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records.

doi:10.1136/jmg.29.12.906

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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 asymptoma...

Topics

Adolescent
Adult
Aged
Blindness
Child
Child, Preschool
Demography
Family Health
Female
Gene Expression
Genes, Dominant
Genetic Variation
Humans
Male
Medical Records
Middle Aged
Pedigree
Records

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