Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome.
Dauwerse
J G
JG
Bouman
K
K
van Essen
A J
AJ
van Der Hout
A H
AH
Kolsters
G
G
Breuning
M H
MH
Peters
D J M
DJ
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
D011506:Proteins; D012097:Repressor Proteins; D050396:TRPP Cation Channels; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; C000624653:TSC2 protein, human