Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity

Chelleri, C; Scala, M; De Marco, P; Guerriero, V; Ognibene, M; Madia, F; Guerrisi, S; Di Duca, M; Torre, M; Tamburro, S; Scudieri, P; Piccolo, G; Mattioli, G; Buffelli, F; Uva, P; Vozzi, D; Fulcheri, E; Striano, P; Diana, MC; Zara, F

Chelleri, C (通讯作者),IRCCS Ist Giannina Gaslini, Pediat Neurol & Neuromusc Disorders Unit, Genoa, Italy.;Chelleri, C (通讯作者),Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy.

HUMAN MUTATION, 2023; 2023 ():

Abstract

Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic disorder with a broad spectrum of associated signs and symptoms, including skeletal anomali......

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