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: Yingying Li,
Liying Dai,
Hong Xu,
Jin Huang,
Jinqiu Zhang,
Zhenzhu Mei,
Rui Zhang Tags: ORIGINAL ARTICLE Source Type: research
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