Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group

Beata Stefania Lipska-Zietkiewicz; Fatih Ozaltin; Tuula Hölttä; Detlef Bockenhauer; Sandra Berody; Elena Levtchenko; Marina Vivarelli; Hazel Webb; Dieter Haffner; Franz Schaefer; Olivia Boyer

doi:10.1038/s41431-020-0642-8

Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group

Beata Stefania Lipska-Zietkiewicz, Fatih Ozaltin, Tuula Hölttä, Detlef Bockenhauer, Sandra Berody, Elena Levtchenko, Marina Vivarelli, Hazel Webb, Dieter Haffner, Franz Schaefer, Olivia Boyer

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	European Journal of Human Genetics
Volym	28
Nummer	10
Sidor (från-till)	1368-1378
Antal sidor	11
ISSN	1018-4813
DOI	https://doi.org/10.1038/s41431-020-0642-8
Status	Publicerad - okt. 2020
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

1184 Genetik, utvecklingsbiologi, fysiologi
3123 Kvinno- och barnsjukdomar

Åtkomst av dokument

10.1038/s41431-020-0642-8

s41431-020-0642-8Slutlig publicerad version, 657 KBLicens: CC BY

Citera det här

Lipska-Zietkiewicz, B. S., Ozaltin, F., Hölttä, T., Bockenhauer, D., Berody, S., Levtchenko, E., Vivarelli, M., Webb, H., Haffner, D., Schaefer, F., & Boyer, O. (2020). Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group. European Journal of Human Genetics, 28(10), 1368-1378. https://doi.org/10.1038/s41431-020-0642-8

@article{0db9f0cd87b44ecbb0af4f4c94edf7f4,

title = "Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group",

keywords = "STEROID-RESISTANT, FINNISH TYPE, MUTATIONS, NPHS1, WT1, CHILDREN, SPECTRUM, WDR73, NEPHROPATHY, DYSFUNCTION, 1184 Genetics, developmental biology, physiology, 3123 Gynaecology and paediatrics",

author = "Lipska-Zietkiewicz, {Beata Stefania} and Fatih Ozaltin and Tuula H{\"o}ltt{\"a} and Detlef Bockenhauer and Sandra Berody and Elena Levtchenko and Marina Vivarelli and Hazel Webb and Dieter Haffner and Franz Schaefer and Olivia Boyer",

year = "2020",

month = oct,

doi = "10.1038/s41431-020-0642-8",

language = "English",

volume = "28",

pages = "1368--1378",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "10",

}

Lipska-Zietkiewicz, BS, Ozaltin, F, Hölttä, T, Bockenhauer, D, Berody, S, Levtchenko, E, Vivarelli, M, Webb, H, Haffner, D, Schaefer, F & Boyer, O 2020, 'Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group', European Journal of Human Genetics, vol. 28, nr. 10, s. 1368-1378. https://doi.org/10.1038/s41431-020-0642-8

TY - JOUR

T1 - Genetic aspects of congenital nephrotic syndrome

T2 - a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group

AU - Lipska-Zietkiewicz, Beata Stefania

AU - Ozaltin, Fatih

AU - Hölttä, Tuula

AU - Bockenhauer, Detlef

AU - Berody, Sandra

AU - Levtchenko, Elena

AU - Vivarelli, Marina

AU - Webb, Hazel

AU - Haffner, Dieter

AU - Schaefer, Franz

AU - Boyer, Olivia

PY - 2020/10

Y1 - 2020/10

KW - STEROID-RESISTANT

KW - FINNISH TYPE

KW - MUTATIONS

KW - NPHS1

KW - WT1

KW - CHILDREN

KW - SPECTRUM

KW - WDR73

KW - NEPHROPATHY

KW - DYSFUNCTION

KW - 1184 Genetics, developmental biology, physiology

KW - 3123 Gynaecology and paediatrics

U2 - 10.1038/s41431-020-0642-8

DO - 10.1038/s41431-020-0642-8

M3 - Article

SN - 1018-4813

VL - 28

SP - 1368

EP - 1378

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 10

ER -