Associated Papers
Loss of surface transport is a main cellular pathomechanism of CRB2 variants causing podocytopathies.
Möller-Kerutt A et al.
Life Science Alliance, 2023
Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.
Adutwum M et al.
Clinical Genetics, 2023
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 2022
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
29795570 (PubMed )
Supplement: pgen.1007329.s012.xlsx › Data_File_S3
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
Yates CL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome.
Udagawa T et al.
Pediatric Nephrology (berlin, Germany), 2017
Expansion of phenotype and genotypic data in CRB2-related syndrome.
Lamont RE et al.
European Journal of Human Genetics : Ejhg, 2016
The Family of Crumbs Genes and Human Disease.
Slavotinek AM
Molecular Syndromology, 2016
CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.
Slavotinek A et al.
American Journal of Human Genetics, 2015
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