title: A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation.
authors.affiliation: Molecular Laboratory for Gene Therapy, Capital Medical University School of Stomatology, Beijing, PR China.
authors.forename: Zhipeng
authors.initials: Z
authors.lastname: Fan
authors.forename: Juan
authors.initials: J
authors.lastname: Du
authors.forename: Huimin
authors.initials: H
authors.lastname: Liu
authors.forename: Honglai
authors.initials: H
authors.lastname: Zhang
authors.forename: Andrzej A
authors.initials: AA
authors.lastname: Dlugosz
authors.forename: Cun-Yu
authors.initials: CY
authors.lastname: Wang
authors.forename: Ming
authors.initials: M
authors.lastname: Fan
authors.forename: Yan
authors.initials: Y
authors.lastname: Shen
authors.forename: Songlin
authors.initials: S
authors.lastname: Wang
mesh_terms: D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002460:Cell Line; D002681:China; D002878:Chromosomes, Human, Pair 1; D004198:Disease Susceptibility; D005091:Exons; D005190:Family; D017930:Genes, Reporter; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D008126:Lod Score; D008156:Luciferases / Q000378:metabolism; D008265:Macrostomia / Q000235:genetics*; D009154:Mutation; D000072079:Patched Receptors; D000072082:Patched-2 Receptor; D010375:Pedigree; D011956:Receptors, Cell Surface / Q000235:genetics*; D013997:Time Factors; D014162:Transfection
chemical_list: D005819:Genetic Markers; C000606238:PTCH2 protein, human; D000072079:Patched Receptors; D000072082:Patched-2 Receptor; D011956:Receptors, Cell Surface; D008156:Luciferases