Article
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
American journal of human genetics - 4 Jan 2018
Koczkowska Magdalena, Chen Yunjia, Callens Tom, Gomes Alicia, Sharp Angela, Johnson Sherrell, Hsiao Meng-Chang, Chen Zhenbin, Balasubramanian Meena, Barnett Christopher P, Becker Troy A, Ben-Shachar Shay, Bertola Debora R, Blakeley Jaishri O, Burkitt-Wright Emma M M, Callaway Alison, Crenshaw Melissa, Cunha Karin S, Cunningham Mitch, D'Agostino Maria D, Dahan Karin, De Luca Alessandro, Destrée Anne, Dhamija Radhika, Eoli Marica, Evans D Gareth R, Galvin-Parton Patricia, George-Abraham Jaya K, Gripp Karen W, Guevara-Campos Jose, Hanchard Neil A, Hernández-Chico Concepcion, Immken LaDonna, Janssens Sandra, Jones Kristi J, Keena Beth A, Kochhar Aaina, Liebelt Jan, Martir-Negron Arelis, Mahoney Maurice J, Maystadt Isabelle, McDougall Carey, McEntagart Meriel, Mendelsohn Nancy, Miller David T, Mortier Geert, Morton Jenny, Pappas John, Plotkin Scott R, Pond Dinel, Rosenbaum Kenneth, Rubin Karol, Russell Laura, Rutledge Lane S, Saletti Veronica, Schonberg Rhonda, Schreiber Allison, Seidel Meredith, Siqveland Elizabeth, Stockton David W, Trevisson Eva, Ullrich Nicole J, Upadhyaya Meena, van Minkelen Rick, Verhelst Helene, Wallace Margaret R, Yap Yoon-Sim, Zackai Elaine, Zonana Jonathan, Zurcher Vickie, Claes Kathleen, Martin Yolanda, Korf Bruce R, Legius Eric, Messiaen Ludwine M
Abstract excerpt
Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000-3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single amino acid deletion p.Met922del. Both variants predispose to a distinct mild NF1 phenotype with...
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