Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: re...
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
About this item
Full title
Author / Creator
Savige, Judy , Storey, Helen , Watson, Elizabeth , Hertz, Jens Michael , Deltas, Constantinos , Renieri, Alessandra , Mari, Francesca , Hilbert, Pascale , Plevova, Pavlina , Byers, Peter , Cerkauskaite, Agne , Gregory, Martin , Cerkauskiene, Rimante , Ljubanovic, Danica Galesic , Becherucci, Francesca , Errichiello, Carmela , Massella, Laura , Aiello, Valeria , Lennon, Rachel , Hopkinson, Louise , Koziell, Ania , Lungu, Adrian , Rothe, Hansjorg Martin , Hoefele, Julia , Zacchia, Miriam , Martic, Tamara Nikuseva , Gupta, Asheeta , van Eerde, Albertien , Gear, Susie , Landini, Samuela , Palazzo, Viviana , al-Rabadi, Laith , Claes, Kathleen , Corveleyn, Anniek , Van Hoof, Evelien , van Geel, Micheel , Williams, Maggie , Ashton, Emma , Belge, Hendica , Ars, Elisabeth , Bierzynska, Agnieszka , Gangemi, Concetta and Lipska-Ziętkiewicz, Beata S.
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
The recent Chandos House meeting of the Alport Variant Collaborative extended the indications for screening for pathogenic variants in the
COL4A5, COL4A3
and
COL4A4
genes beyond the classical Alport phenotype (haematuria, renal failure; family history of haematuria or renal failure) to include persistent proteinuria, steroid-resistant n...
Alternative Titles
Full title
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
Authors, Artists and Contributors
Author / Creator
Storey, Helen
Watson, Elizabeth
Hertz, Jens Michael
Deltas, Constantinos
Renieri, Alessandra
Mari, Francesca
Hilbert, Pascale
Plevova, Pavlina
Byers, Peter
Cerkauskaite, Agne
Gregory, Martin
Cerkauskiene, Rimante
Ljubanovic, Danica Galesic
Becherucci, Francesca
Errichiello, Carmela
Massella, Laura
Aiello, Valeria
Lennon, Rachel
Hopkinson, Louise
Koziell, Ania
Lungu, Adrian
Rothe, Hansjorg Martin
Hoefele, Julia
Zacchia, Miriam
Martic, Tamara Nikuseva
Gupta, Asheeta
van Eerde, Albertien
Gear, Susie
Landini, Samuela
Palazzo, Viviana
al-Rabadi, Laith
Claes, Kathleen
Corveleyn, Anniek
Van Hoof, Evelien
van Geel, Micheel
Williams, Maggie
Ashton, Emma
Belge, Hendica
Ars, Elisabeth
Bierzynska, Agnieszka
Gangemi, Concetta
Lipska-Ziętkiewicz, Beata S.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8384871
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8384871
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-021-00858-1
