title: Lipoid Proteinosis Resulting from a Large Homozygous Deletion Affecting Part of the ECM1 Gene and Adjacent Long Non-coding RNA.
authors.affiliation: Department of Dermatology, Peking University First Hospital, Beijing, China.
authors.forename: Ming-Yang
authors.initials: MY
authors.lastname: Lee
authors.forename: Hui-Jun
authors.initials: HJ
authors.lastname: Wang
authors.forename: Ying
authors.initials: Y
authors.lastname: Han
authors.forename: Yun
authors.initials: Y
authors.lastname: Zhou
authors.forename: Jia-Hui
authors.initials: JH
authors.lastname: Zhao
authors.forename: Li-Na
authors.initials: LN
authors.lastname: Duo
authors.forename: Cheng
authors.initials: C
authors.lastname: Feng
authors.forename: Hong
authors.initials: H
authors.lastname: Hua
authors.forename: Hong-Wei
authors.initials: HW
authors.lastname: Liu
authors.forename: Zhi-Miao
authors.initials: ZM
authors.lastname: Lin
authors.forename: Yong
authors.initials: Y
authors.lastname: Yang
mesh_terms: D002681:China; D018389:Codon, Nonsense; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D011379:Prognosis; D062085:RNA, Long Noncoding / Q000235:genetics*; D018570:Risk Assessment; D055815:Young Adult
chemical_list: D018389:Codon, Nonsense; C490607:ECM1 protein, human; D016326:Extracellular Matrix Proteins; D062085:RNA, Long Noncoding