title: SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings.
authors.affiliation: Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
authors.forename: Egle
authors.initials: E
authors.lastname: Preiksaitiene
authors.affiliation: Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
authors.forename: Eglė
authors.initials: E
authors.lastname: Benušienė
authors.affiliation: Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
authors.forename: Aušra
authors.initials: A
authors.lastname: Matulevičienė
authors.affiliation: Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
authors.forename: Kristina
authors.initials: K
authors.lastname: Grigalionienė
authors.affiliation: Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
authors.forename: Algirdas
authors.initials: A
authors.lastname: Utkus
authors.affiliation: Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
authors.forename: Vaidutis
authors.initials: V
authors.lastname: Kučinskas
mesh_terms: D019943:Amino Acid Substitution; D055036:Campomelic Dysplasia / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D003062:Codon; D005091:Exons; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D010641:Phenotype; D055758:SOX9 Transcription Factor / Q000235:genetics*; D016216:Ultrasonography, Prenatal
chemical_list: D003062:Codon; D055758:SOX9 Transcription Factor