Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

J. Savige*, H. Storey, E. Watson, J.M. Hertz, C. Deltas, A. Renieri, F. Mari, P. Hilbert, P. Plevova, P. Byers, A. Cerkauskaite, M. Gregory, R. Cerkauskiene, D.G. Ljubanovic, F. Becherucci, C. Errichiello, L. Massella, V. Aiello, R. Lennon, L. HopkinsonA. Koziell, A. Lungu, H.M. Rothe, J. Hoefele, M. Zacchia, T.N. Martic, A. Gupta, A. van Eerde, S. Gear, S. Landini, V. Palazzo, L. Al-Rabadi, K. Claes, A. Corveleyn, E. Van Hoof, M. van Geel, M. Williams, E. Ashton, H. Belge, E. Ars, A. Bierzynska, C. Gangemi, B.S. Lipska-Zietkiewicz

*Corresponding author for this work

Research output: Contribution to journalEditorialAcademicpeer-review

2 Citations (Web of Science)
Original languageEnglish
Pages (from-to)1186-1197
Number of pages12
JournalEuropean Journal of Human Genetics
Volume29
Issue number8
DOIs
Publication statusPublished - 1 Aug 2021

Keywords

  • AMINO-ACID-SEQUENCE
  • IV COLLAGEN
  • BASEMENT-MEMBRANE
  • OSTEOGENESIS IMPERFECTA
  • GLYCINE SUBSTITUTIONS
  • MEDICAL GENETICS
  • AMERICAN-COLLEGE
  • MUTATIONS
  • CHAIN
  • DISEASE

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