Article
Non-Mendelian transmission in a human developmental disorder: split hand/split foot.
American journal of human genetics - 1 Oct 1994
Jarvik G P, Patton M A, Homfray T, Evans J P
Abstract excerpt
The study of Mendelian disorders that do not meet some Mendelian expectations has led to an increased understanding of such previously obscure genetic phenomena as anticipation. Split hand/split foot (SHSF), a human developmental malformation, demonstrates such distinctive genetic features as reduced penetrance and variable expressivity. In this study, new pedigrees with defined ascertainment confirm the...
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