Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing

Keyphrases

• Non-consanguineous 100%
• Consanguineous Family 100%
• Renal Ciliopathy 100%
• Targeted Resequencing 100%
• Genetic Analysis 66%
• Renal Insufficiency 66%
• Genetic Screening 66%
• WDR35 66%
• Nephronophthisis-related Ciliopathy 66%
• SDG 8 66%
• Japanese Females 33%
• Female Patients 33%
• Sequencing Panel 33%
• Next-generation Sequencing Techniques 33%
• Polydactyly 33%
• Retinitis pigmentosa 33%
• Clinical Symptoms 33%
• Ciliopathy 33%
• Unknown Cause 33%
• Pediatric 33%
• Screening Approach 33%
• Genetic Background 33%
• Elders 33%
• Renal Failure 33%
• Renal Biopsy 33%
• Renal Manifestations 33%
• Amino Acid Deletion 33%
• End-stage Renal Disease 33%
• Coloboma 33%
• Homozygous Deletion 33%
• Screening System 33%
• Clinical Aspects 33%
• Intellectual Disability 33%
• Substrate Binding 33%
• Consanguineous Parents 33%
• Apical Domain 33%
• Splice Site 33%
• Homozygous mutation 33%
• Compound Heterozygous mutation 33%

Biochemistry, Genetics and Molecular Biology

• Genetic Screening 100%
• MKKS 100%
• Genetics 100%
• Intellectual Disability 50%
• Retinitis pigmentosa 50%
• Next Generation Sequencing 50%
• Genetic Background 50%