Homozygosity for a novel missense variant of < em > RPGRIP1L < /em > causing Joubert syndrome with renal defects in a family of Chinese descent

This study makes a significant contribution to the literature by expanding knowledge of the JS-causing RPGRIP1L variant spectrum, enhancing understanding of RPGRIP1L variant-associated JS phenotypes.PMID:34308837 | DOI:10.5414/CN110539

Source: Clinical Nephrology - July 26, 2021 Category: Urology & Nephrology Authors: Songyang Sun Lin Chen Niu Li Xike Wang Source Type: research