Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Clarkson, Lola K.; Clementi, Maurizio; Cortés, Fanny M.; Cunningham, Mitch; D'Agostino, M. Daniela; Delatycki, Martin B.; Digilio, Maria C.; Dosa, Laura; Esposito, Silvia; Fox, Stephanie; Freckmann, Mary‐Louise; Fauth, Christine; Giugliano, Teresa; Giustini, Sandra; Goetsch, Allison; Goldberg, Yael; Greenwood, Robert S.; Griffis, Cristin; Gripp, Karen W.; Gupta, Punita; Haan, Eric; Hachen, Rachel K.; Haygarth, Tamara L.; Hernández‐Chico, Concepción; Hodge, Katelyn; Hopkin, Robert J.; Hudgins, Louanne; Janssens, Sandra; Keller, Kory; Kelly‐Mancuso, Geraldine; Kochhar, Aaina; Korf, Bruce R.; Lewis, Andrea M.; Liebelt, Jan; Lichty, Angie; Listernick, Robert H.; Lyons, Michael J.; Maystadt, Isabelle; Martinez Ojeda, Mayra; McDougall, Carey; McGregor, Lesley K.; Melis, Daniela; Mendelsohn, Nancy; Nowaczyk, Malgorzata J. M.; Ortenberg, June; Panzer, Karin; Pappas, John G.; Pierpont, Mary Ella; Piluso, Giulio; Pinna, Valentina; Pivnick, Eniko K.; Pond, Dinel A.; Powell, Cynthia M.; Rogers, Caleb; Ruhrman Shahar, Noa; Rutledge, S. Lane; Saletti, Veronica; Sandaradura, Sarah A.; Santoro, Claudia; Schatz, Ulrich A.; Schreiber, Allison; Scott, Daryl A.; Sellars, Elizabeth A.; Sheffer, Ruth; Siqveland, Elizabeth; Slopis, John M.; Smith, Rosemarie; Spalice, Alberto; Stockton, David W.; Streff, Haley; Theos, Amy; Tomlinson, Gail E.; Tran, Grace; Trapane, Pamela L.; Trevisson, Eva; Ullrich, Nicole J.; Van den Ende, Jenneke; Schrier Vergano, Samantha A.; Wallace, Stephanie E.; Wangler, Michael F.; Weaver, David D.; Yohay, Kaleb H.; Zackai, Elaine; Zonana, Jonathan; Zurcher, Vickie; Claes, Kathleen B. M.; Eoli, Marica; Martin, Yolanda; Wimmer, Katharina; De Luca, Alessandro; Legius, Eric; Messiaen, Ludwine M.

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Wiley, Human Mutation: Variation, Informatics and Disease, 1(41), p. 299-315, 2019

DOI: 10.1002/humu.23929

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Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Journal article published in 2019 by Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks, Angela Sharp, Eric Johns, Kim Armfield Uhas, Linlea Armstrong, Katherine Armstrong Bosanko, Dusica Babovic‐Vuksanovic, Laura Baker, Donald G. Basel, Mario Bengala, James T. Bennett and other authors.