A5007939400- Congenital Diaphragmatic Hernia Studies
- Congenital Heart Disease Studies
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Renal and related cancers
- Congenital heart defects research
- Pediatric Urology and Nephrology Studies
- Urological Disorders and Treatments
- Genetic Syndromes and Imprinting
King Faisal Specialist Hospital & Research Centre
2021-2023
Despite large sequencing and data sharing efforts, previously characterized pathogenic variants only account for a fraction of Mendelian disease patients, which highlights the need accurate identification interpretation novel variants. In cohort 4577 molecularly families, numerous scenarios in variant can be challenging are encountered. We describe categories challenges that cover phenotype (e.g. allelic disorders), pedigree structure imprinting disorders masquerading as autosomal recessive...
Abstract Congenital anomalies of the kidney and urinary tract (CAKUT) are a spectrum abnormalities affecting morphogenesis kidneys other structures tract. Bilateral renal agenesis (BRA) is most severe presentation CAKUT. Loss either nephronectin ( NPNT ) or its receptor ITGA8 leads to failure metanephric development with resulting in murine models. Very recently, single family homozygous truncating variant was reported. We report two families whom genome‐wide linkage analysis showed an...