title: Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome.
authors.forename: J G
authors.initials: JG
authors.lastname: Dauwerse
authors.forename: K
authors.initials: K
authors.lastname: Bouman
authors.forename: A J
authors.initials: AJ
authors.lastname: van Essen
authors.forename: A H
authors.initials: AH
authors.lastname: van Der Hout
authors.forename: G
authors.initials: G
authors.lastname: Kolsters
authors.forename: M H
authors.initials: MH
authors.lastname: Breuning
authors.forename: D J M
authors.initials: DJ
authors.lastname: Peters
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D004413:Dysostoses / Q000235:genetics*; D006801:Humans; D008297:Male; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D013577:Syndrome; D050396:TRPP Cation Channels; D014402:Tuberous Sclerosis / Q000235:genetics; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
chemical_list: D011506:Proteins; D012097:Repressor Proteins; D050396:TRPP Cation Channels; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; C000624653:TSC2 protein, human