Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848

Autor: Elizabeth Siqveland, Concepción Hernández-Chico, Jonathan Zonana, Melissa Crenshaw, Maurice J. Mahoney, Eric Legius, Helene Verhelst, Débora Romeo Bertola, Karen W. Gripp, Tom Callens, Jaishri O. Blakeley, Nicole J. Ullrich, Arelis Martir-Negron, Karol Rubin, Marica Eoli, Margaret R. Wallace, Jose Guevara-Campos, Karin Dahan, Zhenbin Chen, Patricia Galvin-Parton, Elaine H. Zackai, Isabelle Maystadt, Radhika Dhamija, Lane S. Rutledge, Meriel McEntagart, Rick van Minkelen, Geert Mortier, Meena Balasubramanian, La Donna Immken, Maria Daniela D'Agostino, Anne Destree, Alicia Gomes, Kenneth N. Rosenbaum, Rhonda L. Schonberg, Emma Burkitt-Wright, Meng-Chang Hsiao, Meena Upadhyaya, Sherrell Johnson, Meredith Seidel, Alessandro De Luca, Troy A. Becker, David T. Miller, Veronica Saletti, Bruce R. Korf, Shay Ben-Shachar, Carey McDougall, David W. Stockton, Magdalena Koczkowska, Kathleen Claes, Laura Russell, Ludwine Messiaen, D. Gareth Evans, Mitch Cunningham, Allison Schreiber, Scott R. Plotkin, Dinel A. Pond, Kristi J. Jones, Vickie Zurcher, Jaya K. George-Abraham, Alison Callaway, Beth Keena, Yunjia Chen, Neil A. Hanchard, Angela Sharp, Yoon Sim Yap, Karin Soares Gonçalves Cunha, Nancy J. Mendelsohn, Jenny Morton, Christopher P. Barnett, Yolanda Martin, Aaina Kochhar, Eva Trevisson, Jan Liebelt, John Pappas, Sandra Janssens

Publikováno v: AMERICAN JOURNAL OF HUMAN GENETICS
American Journal of Human Genetics
Koczkowska, M, Burkitt Wright, E, Evans, D G, Messiaen, L M & et al 2018, ' Genotype-phenotype correlation in NF1 patients: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844-848. ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2017.12.001
American Journal of Human Genetics, 102(1), 69-87. Cell Press
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
The American journal of human genetics

Neurofibromatosis type 1 (NF1), one of the most common genetic disorders with an estimated prevalence of 1:3000 live births, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3b0fb40e7374e1b5e11ec8bd5755064
https://hdl.handle.net/1854/LU-8546030