Article
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Human mutation - 1 Nov 2015
Rojnueangnit Kitiwan, Xie Jing, Gomes Alicia, Sharp Angela, Callens Tom, Chen Yunjia, Liu Ying, Cochran Meagan, Abbott Mary-Alice, Atkin Joan, Babovic-Vuksanovic Dusica, Barnett Christopher P, Crenshaw Melissa, Bartholomew Dennis W, Basel Lina, Bellus Gary, Ben-Shachar Shay, Bialer Martin G, Bick David, Blumberg Bruce, Cortes Fanny, David Karen L, Destree Anne, Duat-Rodriguez Anna, Earl Dawn, Escobar Luis, Eswara Marthanda, Ezquieta Begona, Frayling Ian M, Frydman Moshe, Gardner Kathy, Gripp Karen W, Hernández-Chico Concepcion, Heyrman Kurt, Ibrahim Jennifer, Janssens Sandra, Keena Beth A, Llano-Rivas Isabel, Leppig Kathy, McDonald Marie, Misra Vinod K, Mulbury Jennifer, Narayanan Vinodh, Orenstein Naama, Galvin-Parton Patricia, Pedro Helio, Pivnick Eniko K, Powell Cynthia M, Randolph Linda, Raskin Salmo, Rosell Jordi, Rubin Karol, Seashore Margretta, Schaaf Christian P, Scheuerle Angela, Schultz Meredith, Schorry Elizabeth, Schnur Rhonda, Siqveland Elizabeth, Tkachuk Amanda, Tonsgard James, Upadhyaya Meena, Verma Ishwar C, Wallace Stephanie, Williams Charles, Zackai Elaine, Zonana Jonathan, Lazaro Conxi, Claes Kathleen, Korf Bruce, Martin Yolanda, Legius Eric, Messiaen Ludwine
Abstract excerpt
Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype-phenotype correlations is challenging because of the wide range clinical variability, the progressive nature of the disorder, and extreme diversity of the mutational spectrum. We report 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations...
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