Improving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing the HNF1B gene

Keyphrases

• 17q12 Deletion 100%
• Extrarenal 100%
• HNF1B Gene 100%
• In(III) 50%
• Kidney 50%
• Seizure 50%
• Late-onset 50%
• Renal Function 50%
• Urinary Tract 50%
• Parenchymal Abnormalities 50%
• HNF1A 50%
• Fetal Onset 50%
• Neurodevelopmental 25%
• Autism Spectrum Disorder 25%
• Metabolic 25%
• Family History 25%
• Complete Resolution 25%
• Normal Function 25%
• Molecular Assessment 25%
• Genetic Causes 25%
• Type 1 Diabetes Mellitus (T1DM) 25%
• Affected children 25%
• Normal Renal Function 25%
• Urinary Tract Infection 25%
• Gene Deletion 25%
• Hypomagnesemia 25%
• Global Developmental Delay 25%
• Psychiatric Problems 25%
• Hyperechogenicity 25%
• 17q12 Microdeletion 25%
• Hyperechogenic Kidneys 25%
• Urinary System 25%
• Vesicoureteral Reflux 25%
• Renal Manifestations 25%
• Associated Findings 25%
• Polycystic Kidney Disease 25%
• Fasting Hyperglycemia 25%
• Hyperuricemia 25%
• Genetic Renal Disease 25%
• Postnatal Follow-up 25%
• Cystic Change 25%
• Rolandic 25%
• Bladder Diverticulum 25%
• Delayed Presentation 25%
• Intragenic mutation 25%
• Fetal Ultrasound Findings 25%

Medicine and Dentistry

• Kidney Function 100%
• Urinary Tract 66%
• Diabetes Mellitus 33%
• Epileptic Seizure 33%
• Pervasive Developmental Disorder 33%
• Obesity 33%
• Congenital Malformation 33%
• Developmental Delay 33%
• Observational Study 33%
• Morphology 33%
• Urinary System 33%
• Family History 33%
• Hyperglycemia 33%
• Urinary Tract Infection 33%
• Hypomagnesemia 33%
• Polycystic Kidney Disease 33%
• Gene Deletion 33%
• Vesicoureteral Reflux 33%
• Fetus Echography 33%
• Seizure Types 33%
• Hyperuricemia 33%
• Bladder Diverticulum 33%