Severe Phenotype in Patients with Large Deletions of <em>NF1</em>

Severe Phenotype in Patients with Large Deletions of <em>NF1</em>

Complete deletion of the <i>NF1</i> gene is identified in 5–10% of patients with neurofibromatosis type 1 (NF1). Several studies have previously described particularly severe forms of the disease in NF1 patients with deletion of the <i>NF1</i> locus, but comprehensive descrip...

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Main Authors: Laurence Pacot, Dominique Vidaud, Audrey Sabbagh, Ingrid Laurendeau, Audrey Briand-Suleau, Audrey Coustier, Théodora Maillard, Cécile Barbance, Fanny Morice-Picard, Sabine Sigaudy, Olga O. Glazunova, Lena Damaj, Valérie Layet, Chloé Quelin, Brigitte Gilbert-Dussardier, Frédérique Audic, Hélène Dollfus, Anne-Marie Guerrot, James Lespinasse, Sophie Julia, Marie-Christine Vantyghem, Magali Drouard, Marilyn Lackmy, Bruno Leheup, Yves Alembik, Alexia Lemaire, Patrick Nitschké, Florence Petit, Anne Dieux Coeslier, Eugénie Mutez, Alain Taieb, Mélanie Fradin, Yline Capri, Hala Nasser, Lyse Ruaud, Benjamin Dauriat, Sylvie Bourthoumieu, David Geneviève, Séverine Audebert-Bellanger, Mathilde Nizon, Radka Stoeva, Geoffroy Hickman, Gaël Nicolas, Juliette Mazereeuw-Hautier, Arnaud Jannic, Salah Ferkal, Béatrice Parfait, Michel Vidaud, members of the NF France Network, Pierre Wolkenstein, Eric Pasmant
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:Cancers
Subjects:
neurofibromatosis type 1
NF1
<i>NF1</i> deletion
genotype–phenotype correlation
neurofibromas
NFs
Online Access:https://www.mdpi.com/2072-6694/13/12/2963

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https://www.mdpi.com/2072-6694/13/12/2963

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