Prenatal genetic diagnosis of Costello syndrome in a male fetus with recurrent HRAS mutation p.Gly12Ser.
作者信息
Hague Jennifer, Hackett Gerald, Acerini Carlo, Park Soo-Mi
机构信息
East Anglian Genetics Service, Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Department of Obstetrics and Gynaecology, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
出版信息
Prenat Diagn. 2017 Apr;37(4):409-411. doi: 10.1002/pd.5009. Epub 2017 Feb 23.
DOI:10.1002/pd.5009
PMID:28141901
Abstract
摘要
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