Title: Diaphragmatic hernia as the first echographic sign in Apert syndrome
Authors: Witters, Ingrid ×
Devriendt, Koenraad
Moerman, Philippe
Vanhole, Christine
Fryns, Jean-Pierre #
Issue Date: Jun-2000
Series Title: Prenatal Diagnosisvol:20 issue:5 pages:404-6
Abstract: We report left diaphragmatic hernia as the first presenting echographic sign in a malformed male fetus with Apert syndrome. Molecular studies confirmed the presence of a mutation in the FGFR2 gene (Ser 252 Trp).
ISSN: 0197-3851
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Section Newborn (-)
Translational Cell & Tissue Research
Clinical Genetics
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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