Human Mutation: Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1
October 8, 2019
Magdalena Koczkowska 1, Tom Callens 1, Yunjia Chen 1, Alicia Gomes 1, Alesha D Hicks 1, Angela Sharp 1, Eric Johns 1, Kim Armfield Uhas 2, Linlea Armstrong 3, Katherine Armstrong Bosanko 4, Dusica Babovic-Vuksanovic 5, Laura Baker 6, Donald G Basel 7, Mario Bengala 8, James T Bennett 9, Chelsea Chambers 10, Lola K Clarkson 11, Maurizio Clementi 12, Fanny M Cortés 13, Mitch Cunningham 14, M Daniela D’Agostino 15, Martin B Delatycki 16, Maria C Digilio 17, Laura Dosa 18, Silvia Esposito 19, Stephanie Fox 15, Mary-Louise Freckmann 20, Christine Fauth 21, Teresa Giugliano 22, Sandra Giustini 23, Allison Goetsch 24, Yael Goldberg 25, Robert S Greenwood 26, Cristin Griffis 7, Karen W Gripp 6, Punita Gupta 27, Eric Haan 28, Rachel K Hachen 29, Tamara L Haygarth 30, Concepción Hernández-Chico 31, Katelyn […]