title: A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome.
authors.affiliation: Departments of aMedical Genetics bPediatric Endocrinology, Ankara University School of Medicine cDivision of Medical Genetics, Duzen Laboratories Group, Ankara, Turkey dAssistance Publique-Hôpitaux de Paris, Hôpital Lariboisière, Laboratoire de Biochimie et de Biologie Moléculaire, Paris, France.
authors.forename: Şule
authors.initials: Ş
authors.lastname: Altiner
authors.forename: Halil G
authors.initials: HG
authors.lastname: Karabulut
authors.forename: Kanay
authors.initials: K
authors.lastname: Yararbaş
authors.forename: Ajlan
authors.initials: A
authors.lastname: Tükün
authors.forename: Corinne
authors.initials: C
authors.lastname: Collet
authors.forename: Pinar
authors.initials: P
authors.lastname: Kocaay
authors.forename: Merih
authors.initials: M
authors.lastname: Berberoğlu
authors.forename: Hatice
authors.initials: H
authors.lastname: Ilgin Ruhi
mesh_terms: D000168:Acrocephalosyndactylia / Q000175:diagnosis* / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D019066:Facies; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D011859:Radiography; D017422:Sequence Analysis, DNA; D051879:Twist-Related Protein 1 / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; C103173:TWIST1 protein, human; D051879:Twist-Related Protein 1