Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019270 (hernia)
15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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).
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PMID:Diaphragmatic hernia as the first echographic sign in Apert syndrome. 1082 Apr 9