Ontology highlight
ABSTRACT:
SUBMITTER: Koczkowska M
PROVIDER: S-EPMC5777934 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Koczkowska Magdalena M Chen Yunjia Y Callens Tom T Gomes Alicia A Sharp Angela A Johnson Sherrell S Hsiao Meng-Chang MC Chen Zhenbin Z Balasubramanian Meena M Barnett Christopher P CP Becker Troy A TA Ben-Shachar Shay S Bertola Debora R DR Blakeley Jaishri O JO Burkitt-Wright Emma M M EMM Callaway Alison A Crenshaw Melissa M Cunha Karin S KS Cunningham Mitch M D'Agostino Maria D MD Dahan Karin K De Luca Alessandro A Destrée Anne A Dhamija Radhika R Eoli Marica M Evans D Gareth R DGR Galvin-Parton Patricia P George-Abraham Jaya K JK Gripp Karen W KW Guevara-Campos Jose J Hanchard Neil A NA Hernández-Chico Concepcion C Immken LaDonna L Janssens Sandra S Jones Kristi J KJ Keena Beth A BA Kochhar Aaina A Liebelt Jan J Martir-Negron Arelis A Mahoney Maurice J MJ Maystadt Isabelle I McDougall Carey C McEntagart Meriel M Mendelsohn Nancy N Miller David T DT Mortier Geert G Morton Jenny J Pappas John J Plotkin Scott R SR Pond Dinel D Rosenbaum Kenneth K Rubin Karol K Russell Laura L Rutledge Lane S LS Saletti Veronica V Schonberg Rhonda R Schreiber Allison A Seidel Meredith M Siqveland Elizabeth E Stockton David W DW Trevisson Eva E Ullrich Nicole J NJ Upadhyaya Meena M van Minkelen Rick R Verhelst Helene H Wallace Margaret R MR Yap Yoon-Sim YS Zackai Elaine E Zonana Jonathan J Zurcher Vickie V Claes Kathleen K Martin Yolanda Y Korf Bruce R BR Legius Eric E Messiaen Ludwine M LM
American journal of human genetics 20171228 1
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 neither externally visible cutaneous/plexiform neurofibromas nor other tumors. Here, ...[more]