title: Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements.
authors.affiliation: Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain; Centro de Investigación Biomédica en Enfermedades Raras (CIBERER), Instituto Carlos, Madrid, Spain.
authors.forename: Eva
authors.initials: E
authors.lastname: Barroso
authors.forename: Julia
authors.initials: J
authors.lastname: Berges-Soria
authors.forename: Sara
authors.initials: S
authors.lastname: Benito-Sanz
authors.forename: Carlos Ivan
authors.initials: CI
authors.lastname: Rivera-Pedroza
authors.forename: María Juliana
authors.initials: MJ
authors.lastname: Ballesta-Martínez
authors.forename: Vanesa
authors.initials: V
authors.lastname: López-González
authors.forename: Encarna
authors.initials: E
authors.lastname: Guillen-Navarro
authors.forename: Karen E
authors.initials: KE
authors.lastname: Heath
mesh_terms: D002648:Child; D055028:Comparative Genomic Hybridization; D003398:Craniosynostoses / Q000000981:diagnostic imaging* / Q000235:genetics; D056726:Genetic Association Studies; D053823:Hedgehog Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D012045:Regulatory Sequences, Nucleic Acid
chemical_list: D053823:Hedgehog Proteins; C509246:IHH protein, human