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
Rojnueangnit, Kitiwan K; Xie, Jing J; Gomes, Alicia A; Sharp, Angela A; Callens, Tom T; Chen, Yunjia Y; Liu, Ying Y; Cochran, Meagan M; Abbott, Mary-Alice MA; Atkin, Joan J; Babovic-Vuksanovic, Dusica D; Barnett, Christopher P CP; Crenshaw, Melissa M; Bartholomew, Dennis W DW; Basel, Lina L; Bellus, Gary G; Ben-Shachar, Shay S; Bialer, Martin G MG; Bick, David D; Blumberg, Bruce B; Cortes, Fanny F; David, Karen L KL; Destree, Anne A; Duat-Rodriguez, Anna A; Earl, Dawn D; Escobar, Luis L; Eswara, Marthanda M; Ezquieta, Begona B; Frayling, Ian M IM; Frydman, Moshe M; Gardner, Kathy K; Gripp, Karen W KW; Hernández-Chico, Concepcion C; Heyrman, Kurt K; Ibrahim, Jennifer J; Janssens, Sandra S; Keena, Beth A BA; Llano-Rivas, Isabel I; Leppig, Kathy K; McDonald, Marie M; Misra, Vinod K VK; Mulbury, Jennifer J; Narayanan, Vinodh V; Orenstein, Naama N; Galvin-Parton, Patricia P; Pedro, Helio H; Pivnick, Eniko K EK; Powell, Cynthia M CM; Randolph, Linda L; Raskin, Salmo S; Rosell, Jordi J; Rubin, Karol K; Seashore, Margretta M; Schaaf, Christian P CP; Scheuerle, Angela A; Schultz, Meredith M; Schorry, Elizabeth E; Schnur, Rhonda R; Siqveland, Elizabeth E; Tkachuk, Amanda A; Tonsgard, James J; Upadhyaya, Meena M; Verma, Ishwar C IC; Wallace, Stephanie S; Williams, Charles C; Zackai, Elaine E; Zonana, Jonathan J; Lazaro, Conxi C; Claes, Kathleen K; Korf, Bruce B; Martin, Yolanda Y; Legius, Eric E; Messiaen, Ludwine L