title: Two female cases of focal dermal hypoplasia: One new case with a novel variant in PORCN (c.808_811delGGGG).
authors.affiliation: Department of Dermatology, Beijing Children's Hospital, Capital Medical University, Beijing, China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Liang
authors.affiliation: Department of Dermatology, Beijing Children's Hospital, Capital Medical University, Beijing, China.
authors.forename: Yuan-Xiang
authors.initials: YX
authors.lastname: Liu
authors.affiliation: Department of Dermatology, Beijing Children's Hospital, Capital Medical University, Beijing, China.
authors.forename: Zi-Gang
authors.initials: ZG
authors.lastname: Xu
authors.affiliation: Department of Dermatology, Beijing Children's Hospital, Capital Medical University, Beijing, China.
authors.forename: Lin
authors.initials: L
authors.lastname: Ma
mesh_terms: D000217:Acyltransferases / Q000235:genetics*; D001706:Biopsy; D004252:DNA Mutational Analysis; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D017384:Sequence Deletion; D012867:Skin / Q000473:pathology
chemical_list: D008565:Membrane Proteins; D000217:Acyltransferases; C491188:PORCN protein, human