The face of Noonan syndrome: Does phenotype predict genotype-Reference-Cited by-同舟云学术

The face of Noonan syndrome: Does phenotype predict genotype

Published:2010-07-02 Issue:8 Volume:152A Page:1960-1966
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Allanson Judith E.,Bohring Axel,Dörr Helmuth-Guenther,Dufke Andreas,Gillessen-Kaesbach Gabrielle,Horn Denise,König Rainer,Kratz Christian P.,Kutsche Kerstin,Pauli Silke,Raskin Salmo,Rauch Anita,Turner Anne,Wieczorek Dagmar,Zenker Martin

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33518/fullpdf

Reference27 articles.

1. Noonan syndrome;Allanson;J Med Genet,1987

2. Noonan syndrome: The changing phenotype;Allanson;Am J Med Genet,1985

3. Germline mutations in HRAS proto-oncogene cause Costello syndrome;Aoki;Nat Genet,2005

4. Germline missense mutations affecting KRAS isoform B are associated with a severe Noonan syndrome phenotype;Carta;Am J Hum Genet,2006

5. A restricted spectrum of NRAS mutations causes Noonan syndrome;Cirstea;Nat Genet,2010

Cited by 59 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. Severe generalized edema in a premature neonate: A case report and literature review;Clinical Case Reports;2024-09

2. Language profiles in Noonan Syndrome – A multiple case study;Clinical Linguistics & Phonetics;2024-01-16

3. Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population;Scientific Reports;2023-04-27

4. A 3D Clinical Face Phenotype Space of Genetic Syndromes using a Triplet-Based Singular Geometric Autoencoder;2022-12-27

5. New insights on Noonan syndrome’s clinical phenotype: a single center retrospective study;BMC Pediatrics;2022-12-24