Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome : case report and review of the literature

Keyphrases

• Pathogenic Variants 100%
• Galloway-Mowat Syndrome 100%
• OSGEP 100%
• Early Onset 50%
• Nephrotic Syndrome 50%
• Microcephaly 33%
• WDR73 33%
• Genetic Counseling 16%
• Clinical Presentation 16%
• Genetic Diagnosis 16%
• Autosomal Recessive 16%
• Clinical Suspicion 16%
• Clinical Characteristics 16%
• Monogenic 16%
• Short Life Expectancy 16%
• Hypotonia 16%
• Brain Atrophy 16%
• Genetic Causes 16%
• Brain Anomalies 16%
• Genetic Characteristics 16%
• Developmental Delay 16%
• Disease Variants 16%
• TP53RK 16%
• LAGE3 16%
• Fatality 16%
• Causative Gene 16%
• Family Planning 16%
• Consanguineous Parents 16%
• Genetic Family 16%

Medicine and Dentistry

• Nephrotic Syndrome 100%
• Microcephaly 66%
• Genetic Counseling 33%
• Life Expectancy 33%
• Cerebral Atrophy 33%
• Brain Malformation 33%
• Developmental Delay 33%
• Hypotonia 33%
• Fatality 33%
• Family Planning 33%
• Autosomal Recessive Disorder 33%
• Genetic Trait 33%
• Diseases 33%

Biochemistry, Genetics and Molecular Biology

• Genetics 100%
• Genetic Counseling 50%
• Genetic Trait 50%
• Autosomal Recessive Disorder 50%
• Life Expectancy 50%