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...

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Detalles Bibliográficos
Autores principales: Smeland, Marie F., Brouillard, Pascal, Prescott, Trine, Boon, Laurence M, Hvingel, Bodil, Nordbakken, Cecilie V, Nystad, Mona, Holla, Øystein L., Vikkula, Miikka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Developmental Defects
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

Internet

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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