Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report.
Duque-Cordoba PA et al.
Medicine, 2023
38013309 (PubMed )
Supplement: medi-102-e35600-s001.pdf
Attention to renal involvement: report of 17 Joubert syndrome cases in children of a single center in China.
Ying L et al.
Bmc Pediatrics, 2022
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Delous M et al.
Nature Genetics, 2007
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