Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

doi:10.1086/429346

Article

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

American journal of human genetics - 1 Apr 2005

Johnston Jennifer J, Olivos-Glander Isabelle, Killoran Christina, Elson Emma, Turner Joyce T, Peters Kathryn F, Abbott Margaret H, Aughton David J, Aylsworth Arthur S, Bamshad Michael J, Booth Carol, Curry Cynthia J, David Albert, Dinulos Mary Beth, Flannery David B, Fox Michelle A, Graham John M, Grange Dorothy K, Guttmacher Alan E, Hannibal Mark C, Henn Wolfram, Hennekam Raoul C M, Holmes Lewis B, Hoyme H Eugene, Leppig Kathleen A, Lin Angela E, Macleod Patrick, Manchester David K, Marcelis Carlo, Mazzanti Laura, McCann Emma, McDonald Marie T, Mendelsohn Nancy J, Moeschler John B, Moghaddam Billur, Neri Giovanni, Newbury-Ecob Ruth, Pagon Roberta A, Phillips John A, Sadler Laurie S, Stoler Joan M, Tilstra David, Walsh Vockley Catherine M, Zackai Elaine H, Zadeh Touran M, Brueton Louise, Black Graeme Charles M, Biesecker Leslie G

Abstract excerpt

Mutations in the GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), which are variable but distinct clinical entities. We hypothesized that GLI3 mutations that predict a truncated functional repressor protein cause PHS a...

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Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

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