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Hydrothorax in fetal cases of Opitz G/ BBB diagnosis: Extending the phenotype?
Author(s) -
Tessier Aude,
Boutaud Lucile,
Bruel AngeLine,
ThauvinRobinet Christel,
Roth Philippe,
Malan Valérie,
Beaujard MariePaule,
Achaiaa Amale,
Oliveira Judite,
Steffann Julie,
EnchaRazavi Ferechte,
Faivre Laurence,
Bessières Bettina,
AttiéBitach Tania
Publication year - 2020
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13840
Subject(s) - hydrothorax , phenotype , fetus , mutation , clinical phenotype , medicine , biology , genetics , gene , pregnancy , ascites
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