Providing more evidence on LZTR1 variants in Noonan syndrome patients-Reference-Cited by-同舟云学术

Providing more evidence on LZTR1 variants in Noonan syndrome patients

Published:2019-12-11 Issue:2 Volume:182 Page:409-414
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Chinton Josefina¹^ORCID,Huckstadt Victoria²,Mucciolo Mafalda³,Lepri Francesca³^ORCID,Novelli Antonio³,Gravina Luis Pablo¹,Obregon María Gabriela²

Affiliation:

1. Laboratorio de Biología Molecular, Servicio de GenéticaHospital de Pediatría Garrahan Buenos Aires Argentina

2. Servicio de GenéticaHospital de Pediatría Garrahan Buenos Aires Argentina

3. Medical Genetics Unit, Medical Genetics LaboratoryBambino Gesù Children's Hospital Rome Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61445

Reference18 articles.

1. Recent advances in RASopathies

2. Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing

3. Caracterización clínica y molecular de niños con síndrome de Noonan y otras RASopatías en Argentina;Chinton J.;Archivos Argentinos de Pediatría,2019

4. New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations

5. Multifocal nerve lesions andLZTR1germline mutations in segmental schwannomatosis

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