Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D-Reference-Cited by-同舟云学术

Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D

Published:2008-07-18 Issue:4 Volume:149A Page:785-787
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kuniba Hideo,Pooh Ritsuko K.,Sasaki Kensaku,Shimokawa Osamu,Harada Naoki,Kondoh Tatsuro,Egashira Masanori,Moriuchi Hiroyuki,Yoshiura Koh-ichiro,Niikawa Norio

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference13 articles.

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

2. HRAS mutations in Costello syndrome: Detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy;Estep;Am J Med Genet Part A,2006

3. HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation;Gripp;Am J Med Genet Part A,2006

4. Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases;Kerr;J Med Genet,2006

5. Major fetal structural malformations: The role of new imaging modalities;Lee;Am J Med Genet Part C Semin Med Genet,2007

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