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Mutations in TTC21B cause different phenotypes in two childhood cases in China

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The TTC21B gene is now known as causative of nephronophthisis‐related ciliopathies (NPHP‐RC). We reported two Chinese paediatric cases with end‐stage renal disease and other phenotypes caused by the TTC21B gene… Click to show full abstract

The TTC21B gene is now known as causative of nephronophthisis‐related ciliopathies (NPHP‐RC). We reported two Chinese paediatric cases with end‐stage renal disease and other phenotypes caused by the TTC21B gene mutations.

Keywords: cause different; two childhood; mutations ttc21b; ttc21b cause; phenotypes two; different phenotypes

Journal Title: Nephrology
Year Published: 2018

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