Identification of a novel de novo deletion inRAF1associated with biventricular hypertrophy in Noonan syndrome-Reference-Cited by-同舟云学术

Identification of a novel de novo deletion inRAF1associated with biventricular hypertrophy in Noonan syndrome

Published:2014-04-29 Issue:8 Volume:164 Page:2069-2073
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Sana Maria Elena¹,Spitaleri Andrea²,Spiliotopoulos Dimitrios²,Pezzoli Laura¹,Preda Laura³,Musco Giovanna²,Ferrazzi Paolo⁴,Iascone Maria¹

Affiliation:

1. USSD Laboratorio di Genetica Medica; Azienda Ospedaliera Papa Giovanni XXIII; Bergamo Italy

2. Biomolecular NMR Laboratory; Dulbecco Telethon Institute c/o Center of Translational Genomics and Bioinformatics, Fondazione Centro San Raffaele; Milan Italy

3. Centro per la Diagnosi e il Trattamento delle Cardiopatie Congenite, Dipartimento Cardiovascolare; Azienda Ospedaliera Papa Giovanni XXIII; Bergamo Italy

4. Surgical Centre for Cardiomyopathies and Valvular Diseases; Policlinico di Monza; Monza Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36588/fullpdf

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1. A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation;Genetics Research;2019

2. Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome;BMC Pediatrics;2018-08-29

3. The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor;American Journal of Medical Genetics Part A;2017-12-22

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