Article
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2019
Koczkowska Magdalena, Callens Tom, Gomes Alicia, Sharp Angela, Chen Yunjia, Hicks Alesha D, Aylsworth Arthur S, Azizi Amedeo A, Basel Donald G, Bellus Gary, Bird Lynne M, Blazo Maria A, Burke Leah W, Cannon Ashley, Collins Felicity, DeFilippo Colette, Denayer Ellen, Digilio Maria C, Dills Shelley K, Dosa Laura, Greenwood Robert S, Griffis Cristin, Gupta Punita, Hachen Rachel K, Hernández-Chico Concepción, Janssens Sandra, Jones Kristi J, Jordan Justin T, Kannu Peter, Korf Bruce R, Lewis Andrea M, Listernick Robert H, Lonardo Fortunato, Mahoney Maurice J, Ojeda Mayra Martinez, McDonald Marie T, McDougall Carey, Mendelsohn Nancy, Miller David T, Mori Mari, Oostenbrink Rianne, Perreault Sebastién, Pierpont Mary Ella, Piscopo Carmelo, Pond Dinel A, Randolph Linda M, Rauen Katherine A, Rednam Surya, Rutledge S Lane, Saletti Veronica, Schaefer G Bradley, Schorry Elizabeth K, Scott Daryl A, Shugar Andrea, Siqveland Elizabeth, Starr Lois J, Syed Ashraf, Trapane Pamela L, Ullrich Nicole J, Wakefield Emily G, Walsh Laurence E, Wangler Michael F, Zackai Elaine, Claes Kathleen B M, Wimmer Katharina, van Minkelen Rick, De Luca Alessandro, Martin Yolanda, Legius Eric, Messiaen Ludwine M
Abstract excerpt
PURPOSE: Neurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-frame deletion, c.2970_2972del (p.Met992del), associated with a mild phenotype without any externally visible tumors. METHODS: A total of 135 individuals from 103...
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