When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort-Reference-Cited by-同舟云学术

When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort

Published:2021-06 Issue:6 Volume:23 Page:1116-1124
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Scott Alexandra^ORCID,Di Giosaffatte Niccolò,Pinna Valentina,Daniele Paola,Corno Sara,D’Ambrosio Valentina,Andreucci Elena,Marozza Annabella,Sirchia Fabio,Tortora Giada,Mangiameli Daniela,Di Marco Chiara,Romagnoli Maria,Donati Ilaria,Zonta Andrea,Grosso Enrico,Naretto Valeria Giorgia,Mastromoro Gioia,Versacci Paolo,Pantaleoni Francesca,Radio Francesca Clementina,Mazza Tommaso,Damante Giuseppe,Papi Laura,Mattina Teresa,Giancotti Antonella,Pizzuti Antonio,Laberge Anne-Marie,Tartaglia Marco,Delrue Marie-Ange,De Luca Alessandro

Funder

American International Recruitment Council

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

https://www.nature.com/articles/s41436-020-01093-7.pdf

Reference40 articles.

Cited by 21 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant;European Journal of Human Genetics;2024-06-01

2. RASopathies: Evolving Concepts in Pathogenetics, Clinical Features, and Management;Indian Dermatology Online Journal;2024-04-29

3. Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience;Current Issues in Molecular Biology;2024-04-06

4. Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities;Prenatal Diagnosis;2023-11-07

5. Prenatal whole‐exome sequencing in fetuses with increased nuchal translucency;Molecular Genetics & Genomic Medicine;2023-09-27