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Title: [A new sublethal syndrome with multiple malformations associating diaphragmatic hernia, distal digital hypoplasia, and craniofacial anomalies. The "Fryns syndrome"]
Authors: Fryns, Jean-Pierre ×
Moerman, Philippe
Van den Berghe, Herman
Aymé, S #
Issue Date: Sep-1989
Series Title: Journal de génétique humaine vol:37 issue:3 pages:203-5
Abstract: Prevalence, Clinical variability, Etiology, Survival and Prenatal Diagnosis--In this report, we summarize the actual data on the Fryns syndrome, a true MCA/MR syndrome with autosomal recessive inheritance and sublethal outcome. In addition to the diagnostic triad of diaphragmatic hernia--digital limb hypoplasia--coarse facies, multiple internal malformations are a constant feature.
ISSN: 0021-7743
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Translational Cell & Tissue Research
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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