Homozygosity for a novel missense variant of RPGRIP1L causing Joubert syndrome with renal defects in a family of Chinese descent.
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DOI: 10.5414/cn110539
Abstract: The retinitis pigmentosa GTPase regulator interacting protein 1-like gene (RPGRIP1L) encodes a ciliary protein essential for basic embryonic development. Biallelic variants of RPGRIP1L cause Joubert syndrome (JS) with renal defects. In addition to characteristic JS… read more here.
Keywords: rpgrip1l; syndrome renal; joubert syndrome; chinese descent ... See more keywords