A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis

Volume: 11, Issue: 1, Pages: 116 - 119
Published: Aug 25, 2021
Abstract
Mutations in the ciliary gene TTC21B, NPHP4, and CRB2 cause familial focal and segmental glomerulosclerosis (FSGS). We report a girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis. The patient had mental retardation, postaxial polydactyly, and ataxic breathing, and was diagnosed as having compound heterozygous CC2D2A missense mutations at age 5. Retrospectively, azotemia at 1 year and proteinuria at 5 years...
Paper Details
Title
A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis
Published Date
Aug 25, 2021
Volume
11
Issue
1
Pages
116 - 119
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