title: Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.
authors.affiliation: Department of Pediatrics, University of California, San Diego, California.|Division of Dysmorphology/Genetics, Rady Children's Specialists of San Diego, San Diego, California.
authors.forename: Jaime J
authors.initials: JJ
authors.lastname: Barea
authors.affiliation: Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri.
authors.forename: Eline
authors.initials: E
authors.lastname: van Meel
authors.affiliation: Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri.
authors.forename: Stuart
authors.initials: S
authors.lastname: Kornfeld
authors.affiliation: Department of Pediatrics, University of California, San Diego, California.|Division of Dysmorphology/Genetics, Rady Children's Specialists of San Diego, San Diego, California.
authors.forename: Lynne M
authors.initials: LM
authors.lastname: Bird
mesh_terms: D000293:Adolescent; D000328:Adult; D018322:Angiofibroma / Q000150:complications / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009081:Mucolipidoses / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D007690:Polycystic Kidney Diseases / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D014402:Tuberous Sclerosis / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics