Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?
Aude TessierLucile BoutaudAnge-Line BruelChristel Thauvin-RobinetPhilippe RothValérie MalanMarie-Paule BeaujardAmale AchaiaaJudite de OliveiraJulie SteffannFerechte Encha-RazaviLaurence FaivreBettina BessièresTania Attie-BitachPublished in: Clinical genetics (2020)
We report two fetal cases carrying a de novo MID1 mutation and presenting with severe hydrothorax, suggesting the expansion of the phenotype of Opitz GBBB syndrome.
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