Phenotypic heterogeneity of growth and psychometric intelligence in Prader-Willi syndrome: variable expression of a contiguous gene syndrome or parent-child resemblance?

Abstract excerpt

Phenotypic variability in children with Prader-Willi syndrome (PWS) was investigated with respect to variable expression of the contiguous gene syndrome and trait variance. In a prospective study, parent/child resemblance of anthropometric and psychometric measures was analyzed in 22 children with PWS (11 females and 11 males; 18 deletions, 4 uniparental disomy (UPD)) and in a control group (88 females and 88...

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