Prenatal genetic diagnosis of Costello syndrome in a male fetus with recurrent HRAS mutation p.Gly12Ser

Prenat Diagn. 2017 Apr;37(4):409-411. doi: 10.1002/pd.5009. Epub 2017 Feb 23.

Authors

Jennifer Hague¹, Gerald Hackett², Carlo Acerini³, Soo-Mi Park¹

Affiliations

¹ East Anglian Genetics Service, Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
² Department of Obstetrics and Gynaecology, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
³ Department of Paediatrics, University of Cambridge, Cambridge, UK.

PMID: 28141901
DOI: 10.1002/pd.5009

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Costello Syndrome / diagnostic imaging*
Costello Syndrome / genetics*
Female
Humans
Male
Pregnancy
Pregnancy Trimester, Second
Proto-Oncogene Proteins p21(ras) / genetics*
Ultrasonography, Prenatal

Substances

HRAS protein, human
Proto-Oncogene Proteins p21(ras)