Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype-Reference-Cited by-同舟云学术

Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype

Published:2017-09-15 Issue:1 Volume:93 Page:138-143
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Santoro C.¹,Giugliano T.²,Melone M.A.B.³⁴,Cirillo M.⁵,Schettino C.³,Bernardo P.⁶,Cirillo G.⁵,Perrotta S.¹,Piluso G.²^ORCID

Affiliation:

1. Dipartimento della Donna, del Bambino e della Chirurgia generale e specialistica; Università degli Studi della Campania “Luigi Vanvitelli”; Naples Italy

2. Dipartimento di Biochimica, Biofisica e Patologia Generale; Università degli Studi della Campania “Luigi Vanvitelli”; Naples Italy

3. Divisione di Neurologia, Dipartimento Medico-Chirurgico di Internistica Clinica e Sperimentale “F. Magrassi e A. Lanzara”; Università degli Studi della Campania “Luigi Vanvitelli”; Naples Italy

4. Centro Interuniversitario di Ricerca in Neuroscienze (CIRN); Naples Italy

5. Prima Divisione di Neurologia, Dipartimento di Scienze Mediche, Chirurgiche, Neurologiche, Metaboliche e dell'Invecchiamento; Università degli Studi della Campania “Luigi Vanvitelli”; Naples Italy

6. Dipartimento di Salute Mentale, Fisica e Medicina Preventiva, Clinica di Neuropsichiatria Infantile; Università degli Studi della Campania “Luigi Vanvitelli”; Naples Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13047/fullpdf

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4. High incidence of Noonan Syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation;Rojnueangnit;Hum Mutat,2015

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