Rare variants inSOS2andLZTR1are associated with Noonan syndrome-Reference-Cited by-同舟云学术

Rare variants inSOS2andLZTR1are associated with Noonan syndrome

Published:2015-03-20 Issue:6 Volume:52 Page:413-421
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Yamamoto Guilherme Lopes,Aguena Meire,Gos Monika,Hung Christina,Pilch Jacek,Fahiminiya Somayyeh,Abramowicz Anna,Cristian Ingrid,Buscarilli Michelle,Naslavsky Michel Satya,Malaquias Alexsandra C,Zatz Mayana,Bodamer Olaf,Majewski Jacek,Jorge Alexander A L,Pereira Alexandre C,Kim Chong Ae,Passos-Bueno Maria Rita,Bertola Débora Romeo

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference27 articles.

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4. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome;Aoki;Am J Hum Genet,2013

5. Next-generation sequencing identifies rare variants associated with Noonan syndrome;Chen;Proc Natl Acad Sci USA,2014

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1. Transient Myeloproliferative Disorder (TMD), Acute Lymphoblastic Leukemia (ALL), and Juvenile Myelomonocytic Leukemia (JMML) in a Child with Noonan Syndrome: Sequential Occurrence, Single Center Experience, and Review of the Literature;Genes;2024-09-10

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