Evidence of digenic inheritance in Alport syndrome
Maria Antonietta Mencarelli(Azienda Ospedaliera Universitaria Senese), Alessandra Renieri(University of Siena), Karin Dahan(Lund University), Bertrand Knebelmann(Université Paris Cité), Michel van Geel(Maastricht University Medical Centre), Francesca Mari(Vita-Salute San Raffaele University), Francesca Ariani(University of Siena), John A. Sayer(Newcastle upon Tyne Hospitals NHS Foundation Trust), Helen Storey(St Thomas' Hospital), Corinne Antignac(Hôpital Necker-Enfants Malades), Chiara Fallerini(University of Siena), Laurence Heidet(Hôpital Necker-Enfants Malades), Mirella Bruttini(University of Siena), Frances Flinter(Guy's and St Thomas' NHS Foundation Trust), Francesco Cetta(MultiMedica), Shu Yau(Guy's Hospital), Nunzia Miglietti(Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia), Arthur van den Wijngaard(Maastricht University Medical Centre), Maria Fatima Antonucci(University of Siena)
Cited by 164
Related Papers
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases
|Nature|1993|1.5k
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
|Journal of Medical Genetics|1999|971
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
|Nature Genetics|2022|613
X-linked Alport Syndrome
|Journal of the American Society of Nephrology|2000|592