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Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis
BACKGROUND: Hydrops fetalis, a pathological fluid accumulation in two or more body compartments, is aetiologically heterogeneous. We investigated a consanguineous family with recurrent pregnancy loss due to severe early-onset non-immune hydrops fetalis. METHODS AND RESULTS: Whole exome sequencing in...
Autores principales: | Smeland, Marie F., Brouillard, Pascal, Prescott, Trine, Boon, Laurence M, Hvingel, Bodil, Nordbakken, Cecilie V, Nystad, Mona, Holla, Øystein L., Vikkula, Miikka |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9811075/ https://www.ncbi.nlm.nih.gov/pubmed/34876502 http://dx.doi.org/10.1136/jmedgenet-2021-108179 |
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