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UnknownA novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement.
Not available
S-EPMC10666333 | biostudies-literature
UnknownCase Report: Novel RPGRIP1L Gene Mutations Identified by Whole Exome Sequencing in a Patient With Multiple Primary Tumors.
Not available
S-EPMC7882720 | biostudies-literature
UnknownPrenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome.
Not available
S-EPMC9437271 | biostudies-literature
UnknownCC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
Not available
S-EPMC2783384 | biostudies-literature
UnknownMutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Not available
S-EPMC3913043 | biostudies-literature
UnknownAstrogliosis and neuroinflammation underlie scoliosis upon cilia dysfunction.
Not available
S-EPMC11466456 | biostudies-literature
UnknownAttention to renal involvement: report of 17 Joubert syndrome cases in children of a single center in China.
Not available
S-EPMC9297557 | biostudies-literature
UnknownMolecular approach in the study of Alstrom syndrome: analysis of ten Spanish families.
Not available
S-EPMC3413414 | biostudies-literature
UnknownMolecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
Not available
S-EPMC3176075 | biostudies-literature
UnknownAllelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.
Not available
S-EPMC3155520 | biostudies-literature
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