Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome.

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作者： Marc,Ventayol-Guirado ^[1] ; Laura,Torres ^[2] ; Victor,Asensio-Landa ^[2] ; Ángeles,Pérez-Granero ^[3] ; Maria Isabel,Madrid ^[3] ; Jessica,Hernandez-Rodriguez ^[2] ; Maria Victoria,Llull-Alberti ^[1] ; Javier,Lumbreras ^[4] ; Silvia,Escribà ^[5] ; Monserrat,Pons ^[5] ; Jordi,Roldan ^[6] ; Iciar,Martínez-López ^[2] ; Damian,Heine-Suñer ^[2] ; Fernando,Santos-Simarro ^[2]

作者单位： Health Research Institute of the Balearic Islands (IdISBa), Genomics of Health research group, Palma, Spain. ^[1] Health Research Institute of the Balearic Islands (IdISBa), Genomics of Health research group, Palma, Spain.;Hospital Universitari Son Espases, Unit of Molecular Diagnostics and Clinical Genetics, Palma, Spain. ^[2] Hospital Universitari Son Espases, Unit of Molecular Diagnostics and Clinical Genetics, Palma, Spain. ^[3] Pediatrics Department, Hospital Universitari Son Espases, Palma, Spain.;Health Research Institute of the Balearic Islands (IdISBa), Multidisciplinary Pediatric Research Group, Palma, Spain. ^[4] Pediatrics Department, Hospital Universitari Son Espases, Palma, Spain. ^[5] Radiology Department, Hospital Universitari Son Espases, Palma, Spain. ^[6]

关键词 ADPKD TSC TSC2/PKD1 CGS complex genomic rearrangement germline mutation polycystin 1