Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome.

doi:10.1136/jmg.29.4.221

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Article

Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome.

Journal of medical genetics - 1 Apr 1992

Viljoen D, Ramesar R

Abstract excerpt

A previously unreported family in which seven members in two generations have Beckwith-Wiedemann syndrome (BWS) is documented. Paternal imprinting of the gene responsible for BWS is involved as the mechanism responsible for the aberrant inheritance pattern in this kindred. A review of published r...

Topics

Beckwith-Wiedemann Syndrome
Fathers
Female
Heterozygote
Humans
Male
Models, Genetic
Pedigree
Phenotype

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