Associated Papers
Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.
Tapper EE et al.
Kidney Medicine, 2026
41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel
OFD1: One gene, several disorders.
Pezzella N et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.
Zacchia M et al.
Journal of Nephrology, 2021
In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.
Alby C et al.
Birth Defects Research, 2018
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
Del Giudice E et al.
Orphanet Journal of Rare Diseases, 2014
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
Bisschoff IJ et al.
Human Mutation, 2013
The molecular basis of oral-facial-digital syndrome, type 1.
Macca M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2009
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