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

Authors:
Aude Tessier Lucile Boutaud Ange-Line Bruel Christel Thauvin-Robinet Philippe Roth Valérie Malan Marie-Paule Beaujard Amale Achaiaa Judite de Oliveira Julie Steffann Ferechte Encha-Razavi Laurence Faivre Bettina Bessières Tania Attié-Bitach

Clin Genet 2020 Dec 14;98(6):620-621. Epub 2020 Sep 14.

Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, Paris, France.

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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http://dx.doi.org/10.1111/cge.13840DOI Listing
December 2020

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