Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases

We report the screening of a large panel of genes in a series of 100 fetuses (98 families) affected with severe renal defects. Causative variants were identified in 22% of cases, greatly improving genetic counseling. The percentage of variants explaining the phenotype was different according to the...

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Veröffentlicht in:	Human mutation 2022-03, Vol.43 (3), p.347-361
Hauptverfasser:	Jordan, Penelope, Dorval, Guillaume, Arrondel, Christelle, Morinière, Vincent, Tournant, Carole, Audrezet, Marie‐Pierre, Michel‐Calemard, Laurence, Putoux, Audrey, Lesca, Gaethan, Labalme, Audrey, Whalen, Sandra, Loeuillet, Laurence, Martinovic, Jelena, Attie‐Bitach, Tania, Bessières, Bettina, Schaefer, Elise, Scheidecker, Sophie, Lambert, Laetitia, Beneteau, Claire, Patat, Olivier, Boute‐Benejean, Odile, Molin, Arnaud, Guimiot, Fabien, Fontanarosa, Nicolas, Nizon, Mathilde, Lefebvre, Mathilde, Jeanpierre, Cécile, Saunier, Sophie, Heidet, Laurence
Format:	Artikel
Sprache:	eng
Schlagworte:	Antigens, Neoplasm Cell Cycle Proteins - genetics congenital abnormalities of the kidney and urinary tract Congenital defects Cytoskeletal Proteins - genetics DNA sequencing Female fetal renal diseases Fetus - abnormalities Fetuses Genetic counseling Genotype & phenotype Heredity High-Throughput Nucleotide Sequencing Homozygote Humans Kidney - abnormalities Kidney diseases Kidney Diseases - congenital Kidney Diseases - diagnosis Kidney Diseases - genetics Life Sciences Male Mutation NGS targeted RNA sequencing Pax2 protein Phenotypes Polycystic kidney Polycystic Kidney, Autosomal Dominant - genetics renal ciliopathies renal tubular dysgenesis Urinary tract
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