Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy

Am J Med Genet A. 2015 Oct;167A(10):2478-80. doi: 10.1002/ajmg.a.37175. Epub 2015 May 22.

Authors

Tawfeg Ben-Omran¹, Reem Alsulaiman¹, Hussein Kamel², Ranad Shaheen³, Fowzan S Alkuraya^{3

4}

Affiliations

¹ Department of Pediatrics, Section of Clinical and Metabolic Genetics, Doha, Qatar.
² Department of Radiology, Hamad Medical Corporation, and Weill Cornell Medical College, Doha, Qatar.
³ Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
⁴ Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

PMID: 25997910
DOI: 10.1002/ajmg.a.37175

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Cell Cycle Proteins / genetics*
Cleft Lip / genetics*
Cleft Lip / pathology
Consanguinity
Encephalocele / genetics*
Encephalocele / pathology
Female
Gene Expression
Humans
Hydrocephalus / genetics*
Hydrocephalus / pathology
Infant
Male
Meningocele / genetics*
Meningocele / pathology
Microtubule-Associated Proteins / genetics*
Mutation*
Pedigree
Phenotype
Saudi Arabia

Substances

CSPP1 protein, human
Cell Cycle Proteins
Microtubule-Associated Proteins