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Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing: Report of a novel homozygous missense FRAS1 mutation
Author(s) -
Kornacki Jakub,
SowińskaSeidler Anna,
Socha Magdalena,
Ropacka Mariola,
Jamsheer Aleksander
Publication year - 2017
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12177
Subject(s) - proband , exome sequencing , missense mutation , medicine , genetic counseling , prenatal diagnosis , pediatrics , pregnancy , genetics , mutation , fetus , biology , gene
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