RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31

MeSH terms

• Abnormalities, Multiple* / diagnosis
• Abnormalities, Multiple* / genetics
• Cell Cycle Proteins / genetics
• Cerebellum / abnormalities*
• Eye Abnormalities* / diagnosis
• Eye Abnormalities* / genetics
• Humans
• Introns / genetics
• Kidney Diseases, Cystic* / diagnosis
• Kidney Diseases, Cystic* / genetics
• Mutation
• Retina / abnormalities*
• Sequence Analysis, RNA
• Siblings