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. 2020 Dec;98(6):620-621.
doi: 10.1111/cge.13840. Epub 2020 Sep 14.

Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?

Aude Tessier  1   2 , Lucile Boutaud  1   2 , Ange-Line Bruel  3   4 , Christel Thauvin-Robinet  3   4 , Philippe Roth  5 , Valérie Malan  1   2 , Marie-Paule Beaujard  1 , Amale Achaiaa  1 , Judite de Oliveira  6 , Julie Steffann  2   6 , Ferechte Encha-Razavi  1 , Laurence Faivre  3   4 , Bettina Bessières  1   2 , Tania Attié-Bitach  1   2
Affiliations

Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?

Aude Tessier et al. Clin Genet. 2020 Dec.

Abstract

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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References

REFERENCES

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