Molecular analysis expands the spectrum
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Jennifer J. Johnston; Julie C. Sapp; Joyce T. Turner; David Amor; Salim Aftimos;
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Article
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2010
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John Wiley and Sons
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English
⚖ 196 KB
A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one