Detection of a heterozygous de novo pathogenic variant in the PTPN11 gene (c.1505 C > T, p.S502L) in a fetus associated with cystic hygroma and congenital heart defects

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Bibliographic Details
Main Author: Chih-Ping Chen (Author)
Format: Book
Published: Elsevier, 2024-11-01T00:00:00Z.
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100 1 0 |a Chih-Ping Chen  |e author 
245 0 0 |a Detection of a heterozygous de novo pathogenic variant in the PTPN11 gene (c.1505 C > T, p.S502L) in a fetus associated with cystic hygroma and congenital heart defects 
260 |b Elsevier,   |c 2024-11-01T00:00:00Z. 
500 |a 1028-4559 
500 |a 10.1016/j.tjog.2024.09.016 
546 |a EN 
690 |a Gynecology and obstetrics 
690 |a RG1-991 
655 7 |a article  |2 local 
786 0 |n Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 6, Pp 955-957 (2024) 
787 0 |n http://www.sciencedirect.com/science/article/pii/S1028455924002523 
787 0 |n https://doaj.org/toc/1028-4559 
856 4 1 |u https://doaj.org/article/4e9036e7c2124f59b0ce347314ae7f3f  |z Connect to this object online.