Expanding the phenotype of CRB2 mutations – A new ciliopathy syndrome?

Keyphrases

• Ciliopathy 100%
• CrB2 100%
• Ashkenazi Jews 20%
• Lung Hypoplasia 20%
• Splice Variant 10%
• Associated Diseases 10%
• Compound Heterozygous mutation 10%
• Steroid-resistant Nephrotic Syndrome 10%
• Cardiac Malformation 10%
• Urinary Tract Anomalies 10%
• Exome Sequencing 10%
• Ciliogenesis 10%
• Kidney Disease 10%
• Heart Defects 10%
• Affected Siblings 10%
• Ventriculomegaly 10%
• Biallelic 10%
• Carrier Frequency 10%
• Ciliary Function 10%
• Renal Anomalies 10%
• Congenital Hydrocephalus 10%
• Digenic 10%
• Prenatal Origin 10%
• Polarity Proteins 10%

Biochemistry, Genetics and Molecular Biology

• Animal Model 100%
• Exome Sequencing 100%
• Ciliogenesis 100%

Medicine and Dentistry

• Ciliopathy 100%
• Pulmonary Hypoplasia 25%
• Disease 12%
• Congenital Malformation 12%
• Pelvis 12%
• Nephropathy 12%
• Ventriculomegaly 12%
• Exome Sequencing 12%
• Urinary Tract Malformation 12%
• Kidney Malformation 12%
• Congenital Nephrotic Syndrome 12%
• Ciliogenesis 12%
• Congenital Hydrocephalus 12%