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OP02.04: Next generation sequencing (NGS) in the prenatal diagnosis of recurrent Steel syndrome
Author(s) -
Larroya Sola M.,
Borobio V.,
Borrell A.,
Nadal A.,
Gómez O.,
Segura M.,
Gratacós E.
Publication year - 2019
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.20660
Subject(s) - medicine , frameshift mutation , amniocentesis , missense mutation , prenatal diagnosis , nonsense mutation , polyhydramnios , arthrogryposis , pediatrics , mutation , pregnancy , obstetrics , genetics , surgery , fetus , gene , biology