Article
New insights into genotype-phenotype correlation for GLI3 mutations.
European journal of human genetics : EJHG - 1 Jan 2015
Démurger Florence, Ichkou Amale, Mougou-Zerelli Soumaya, Le Merrer Martine, Goudefroye Géraldine, Delezoide Anne-Lise, Quélin Chloé, Manouvrier Sylvie, Baujat Geneviève, Fradin Mélanie, Pasquier Laurent, Megarbané André, Faivre Laurence, Baumann Clarisse, Nampoothiri Sheela, Roume Joëlle, Isidor Bertrand, Lacombe Didier, Delrue Marie-Ange, Mercier Sandra, Philip Nicole, Schaefer Elise, Holder Muriel, Krause Amanda, Laffargue Fanny, Sinico Martine, Amram Daniel, André Gwenaelle, Liquier Alain, Rossi Massimiliano, Amiel Jeanne, Giuliano Fabienne, Boute Odile, Dieux-Coeslier Anne, Jacquemont Marie-Line, Afenjar Alexandra, Van Maldergem Lionel, Lackmy-Port-Lis Marylin, Vincent-Delorme Catherine, Chauvet Marie-Liesse, Cormier-Daire Valérie, Devisme Louise, Geneviève David, Munnich Arnold, Viot Géraldine, Raoul Odile, Romana Serge, Gonzales Marie, Encha-Razavi Ferechte, Odent Sylvie, Vekemans Michel, Attie-Bitach Tania
Abstract excerpt
The phenotypic spectrum of GLI3 mutations includes autosomal dominant Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS). PHS was first described as a lethal condition associating hypothalamic hamartoma, postaxial or central polydactyly, anal atresia and bifid epiglottis. Typical GCPS combines polysyndactyly of hands and feet and craniofacial features. Genotype-phenotype correlations...
Read the complete abstract on PubMed