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Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis

Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9811075

Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis

About this item

Full title

Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis

Publisher

England: BMJ Publishing Group Ltd

Journal title

Journal of medical genetics, 2023-01, Vol.60 (1), p.57-64

Language

English

Formats

Publication information

Publisher

England: BMJ Publishing Group Ltd

More information

Scope and Contents

Contents

BackgroundHydrops 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 resultsWhole exome sequencing in four fetuses with hydrops fetalis revealed that they w...

Alternative Titles

Full title

Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9811075

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9811075

Other Identifiers

ISSN

0022-2593

E-ISSN

1468-6244

DOI

10.1136/jmedgenet-2021-108179

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