title: The p.R56* mutation in PTHLH causes variable brachydactyly type E.
authors.affiliation: Molecular (Epi) Genetics Laboratory, OSI Araba, University Hospital, Vitoria-Gasteiz, Spain.|Department of Biochemistry and Molecular Biology, University of Basque Country, Leioa, Spain.
authors.forename: Arrate
authors.initials: A
authors.lastname: Pereda
authors.affiliation: Department of Pediatrics, Division of Endocrinology, 12 de Octubre Hospital, Madrid, Spain.
authors.forename: Lucia
authors.initials: L
authors.lastname: Garzon-Lorenzo
authors.affiliation: Molecular (Epi) Genetics Laboratory, OSI Araba, University Hospital, Vitoria-Gasteiz, Spain.
authors.forename: Intza
authors.initials: I
authors.lastname: Garin
authors.affiliation: Department of Pediatrics, Division of Endocrinology, 12 de Octubre Hospital, Madrid, Spain.
authors.forename: Jaime
authors.initials: J
authors.lastname: Cruz-Rojo
authors.affiliation: Department of Pediatrics, Division of Endocrinology, 12 de Octubre Hospital, Madrid, Spain.
authors.forename: Jaime
authors.initials: J
authors.lastname: Sanchez Del Pozo
authors.affiliation: Molecular (Epi) Genetics Laboratory, OSI Araba, University Hospital, Vitoria-Gasteiz, Spain.
authors.forename: Guiomar
authors.initials: G
authors.lastname: Perez de Nanclares
mesh_terms: D000365:Age Determination by Skeleton; D059327:Brachydactyly / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D044162:Parathyroid Hormone-Related Protein / Q000235:genetics*; D010375:Pedigree
chemical_list: C470121:PTHLH protein, human; D044162:Parathyroid Hormone-Related Protein