Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants

ConclusionsCompound-heterozygousTTC21B variants underlie the phenotype in this patient. Thus, Cys518Arg may be a hotspot variant in the Chinese population. Genetic testing should be recommended for NPHP in neonates and early infants.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research