An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation.
Houge
Gunnar
G
Oeffner
Frank
F
Grzeschik
Karl-Heinz
KH
D000217:Acyltransferases; D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000235:genetics* / Q000378:metabolism; D005799:Genes, Dominant; D006391:Hemangioma / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics* / Q000378:metabolism; D049951:X Chromosome Inactivation / Q000235:genetics*
D008565:Membrane Proteins; D000217:Acyltransferases; C491188:PORCN protein, human