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P34.14: Brachmann‐de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation
Author(s) -
Schröer A.,
GillessenKaesbach G.,
Weichert J.
Publication year - 2010
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.8789
Subject(s) - medicine , amniocentesis , chorionic villus sampling , genetic counseling , pregnancy , prenatal diagnosis , genetic testing , fetus , nonsense mutation , obstetrics , gynecology , pediatrics , mutation , genetics , gene , missense mutation , biology