title: Mosaic focal dermal hypoplasia caused by a novel somatic mutation in PORCN detected in affected skin.
authors: Harvard Medical School, Boston, MA, U.S.A.
authors: J
authors: J
authors: Sheu
authors: Harvard Medical School, Boston, MA, U.S.A.|Department of Dermatology, Brigham and Women's Hospital, Boston, MA, 02115, U.S.A.
authors: S J
authors: SJ
authors: Divito
authors: Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, 02115, U.S.A.
authors: E P
authors: EP
authors: Hoffman
authors: Harvard Medical School, Boston, MA, U.S.A.|Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, 02115, U.S.A.
authors: N Y
authors: NY
authors: Frank
authors: Harvard Medical School, Boston, MA, U.S.A.|Department of Dermatology, Brigham and Women's Hospital, Boston, MA, 02115, U.S.A.
authors: J F
authors: JF
authors: Merola
mesh_terms: D000217:Acyltransferases; D000328:Adult; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000235:genetics*; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009030:Mosaicism
chemical_list: D008565:Membrane Proteins; D000217:Acyltransferases; C491188:PORCN protein, human