title: Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy.
authors.affiliation: Department of Pediatrics, Section of Clinical and Metabolic Genetics, Doha, Qatar.
authors.forename: Tawfeg
authors.initials: T
authors.lastname: Ben-Omran
authors.affiliation: Department of Pediatrics, Section of Clinical and Metabolic Genetics, Doha, Qatar.
authors.forename: Reem
authors.initials: R
authors.lastname: Alsulaiman
authors.affiliation: Department of Radiology, Hamad Medical Corporation, and Weill Cornell Medical College, Doha, Qatar.
authors.forename: Hussein
authors.initials: H
authors.lastname: Kamel
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Ranad
authors.initials: R
authors.lastname: Shaheen
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.|Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D000328:Adult; D018797:Cell Cycle Proteins / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics* / Q000473:pathology; D003241:Consanguinity; D004677:Encephalocele / Q000235:genetics* / Q000473:pathology; D005260:Female; D015870:Gene Expression; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics* / Q000473:pathology; D007223:Infant; D008297:Male; D008588:Meningocele / Q000235:genetics* / Q000473:pathology; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012529:Saudi Arabia
chemical_list: C514207:CSPP1 protein, human; D018797:Cell Cycle Proteins; D008869:Microtubule-Associated Proteins