title: A novel mutation of orthodenticle homeobox 2 contributing to a case of otocephaly initially diagnosed by prenatal ultrasound in the first trimester.
authors.affiliation: aDepartment of Pediatrics, Division of Genetic and Genomic Medicine bDepartment of Obstetrics and Gynecology, University of California Irvine, Orange cDepartment of Pediatrics, Loma Linda University Health, Loma Linda, California, USA.
authors.forename: Meredith
authors.initials: M
authors.lastname: Jones
authors.forename: Judith
authors.initials: J
authors.lastname: Chung
authors.forename: Virginia
authors.initials: V
authors.lastname: Kimonis
authors.forename: June-Anne
authors.initials: JA
authors.lastname: Gold
mesh_terms: D000328:Adult; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D003933:Diagnosis; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D051857:Otx Transcription Factors / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D016216:Ultrasonography, Prenatal
chemical_list: C497659:OTX2 protein, human; D051857:Otx Transcription Factors