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

L, Pacot; D, Vidaud; A, Sabbagh; I, Laurendeau; A, Briand-Suleau; A, Coustier; T, Maillard; C, Barbance; F, Morice-Picard; S, Sigaudy; OO, Glazunova; L, Damaj; V, Layet; C, Quelin; B, Gilbert-Dussardier; F, Audic; H, Dollfus; AM, Guerrot; J, Lespinasse; S, Julia; MC, Vantyghem; M, Drouard; M, Lackmy; B, Leheup; Y, Alembik; A, Lemaire; P, Nitschké; F, Petit; Coeslier A, Dieux; E, Mutez; A, Taieb; M, Fradin; Y, Capri; H, Nasser; L, Ruaud; B, Dauriat; S, Bourthoumieu; D, Geneviève; S, Audebert-Bellanger; M, Nizon; R, Stoeva; G, Hickman; G, Nicolas; J, Mazereeuw-Hautier; A, Jannic; S, Ferkal; B, Parfait; M, Vidaud; Of The Nf France Network, Members; P, Wolkenstein; E, Pasmant

doi:10.3390/cancers13122963

Public

Severe Phenotype in Patients with Large Deletions of NF1.

Shared by NobleBlocks on Jun 13, 2021 • 12:00 AM UTC

Authors:

Pacot L

Vidaud D

Sabbagh A

Abstract

Complete deletion of the NF1 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 NF1 locus, but comprehensive descriptions of large cohorts are still missi...

Subject

Cardiovascular abnormalities

Learning Disabilities

Neurofibromatosis Type 1

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