Syringocystadenoma papilliferum in a patient with focal dermal hypoplasia due to a novel PORCN mutation.
Schaffer
Julie V
JV
Cantatore-Francis
Julie L
JL
Shin
Helen T
HT
Rosenman
Karla S
KS
D000217:Acyltransferases; D002648:Child; D003537:Cystadenoma / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D013544:Sweat Gland Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology; D018252:Syringoma / Q000150:complications / Q000235:genetics* / Q000473:pathology
D008565:Membrane Proteins; D000217:Acyltransferases; C491188:PORCN protein, human