Biallelic <i>ANGPT2</i> loss-of-function causes severe early-onset non-immune hydrops fetalis.

Smeland, Marie F; Brouillard, Pascal; Prescott, Trine; Boon, Laurence M; Hvingel, Bodil; Nordbakken, Cecilie V; Nystad, Mona; Holla, Øystein L; Vikkula, Miikka

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

Smeland, Marie F; Brouillard, Pascal; Prescott, Trine; Boon, Laurence M; Hvingel, Bodil; Nordbakken, Cecilie V; Nystad, Mona; Holla, Øystein L; Vikkula, Miikka.

Afiliação

Smeland MF; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.
Brouillard P; Human Molecular Genetics, de Duve Institute, Universite catholique de Louvain, Brussels, Belgium.
Prescott T; Department of Medical Genetics, Telemark Hospital, Skien, Norway.
Boon LM; Center for Vascular Anomalies, Division of Plastic Surgery, VASCERN VASCA European Reference Centre, University Hospital Saint-Luc, Bruxelles, Belgium.
Hvingel B; Department of Obstetrics and Gynecology, University Hospital of North Norway, Tromsø, Norway.
Nordbakken CV; Department of Clinical Pathology, University Hospital of North Norway, Tromsø, Norway.
Nystad M; Department of Obstetrics and Gynecology, University Hospital of North Norway, Tromsø, Norway.
Holla ØL; Department of Clinical Medicine, University Hospital of North Norway, Tromsø, Norway.
Vikkula M; Department of Medical Genetics, Telemark Hospital, Skien, Norway oholla@sthf.no.

J Med Genet ; 60(1): 57-64, 2023 01.

Article em En | MEDLINE | ID: mdl-34876502

Assuntos

Angiopoietina-2; Hidropisia Fetal; Animais; Feminino; Humanos; Camundongos; Gravidez; Angiopoietina-2/genética; Códon sem Sentido/genética; Heterozigoto; Hidropisia Fetal/genética; Hidropisia Fetal/metabolismo; Mutação de Sentido Incorreto; Recém-Nascido

Palavras-chave

female urogenital diseases and pregnancy complications; genetics; loss of function mutation; medical

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hidropisia Fetal / Angiopoietina-2 Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Female / Humans / Newborn / Pregnancy Idioma: En Revista: J Med Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Noruega

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