title: Novel homozygous ALX4 mutation causing frontonasal dysplasia-2 in a patient with meningoencephalocele.
authors.affiliation: Department of Morphology and Genetics, Genetics Division, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: V A
authors.initials: VA
authors.lastname: Meloni
authors.affiliation: Department of Morphology and Genetics, Genetics Division, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: M
authors.initials: M
authors.lastname: Moysés-Oliveira
authors.affiliation: Department of Medicine, Division of Endocrinology, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: M C C
authors.initials: MC
authors.lastname: Melo
authors.affiliation: Department of Morphology and Genetics, Genetics Division, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: T P
authors.initials: TP
authors.lastname: Caneloi
authors.affiliation: Department of Morphology and Genetics, Genetics Division, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: A G
authors.initials: AG
authors.lastname: Dantas
authors.affiliation: Department of Imaging Diagnosis, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: M F F
authors.initials: MF
authors.lastname: Soares
authors.affiliation: Department of Morphology and Genetics, Genetics Division, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: R
authors.initials: R
authors.lastname: Fock
authors.affiliation: Department of Morphology and Genetics, Genetics Division, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: P D
authors.initials: PD
authors.lastname: Rodrigues de Nicola
authors.affiliation: Department of Medicine, Division of Endocrinology, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: M R
authors.initials: MR
authors.lastname: Dias-da-Silva
authors.affiliation: Department of Morphology and Genetics, Genetics Division, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: M I
authors.initials: MI
authors.lastname: Melaragno
mesh_terms: D001483:Base Sequence; D019465:Craniofacial Abnormalities / Q000150:complications / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D004677:Encephalocele / Q000150:complications*; D005145:Face / Q000002:abnormalities*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008588:Meningocele / Q000150:complications*; D008969:Molecular Sequence Data; D009154:Mutation; D017422:Sequence Analysis, DNA; D012689:Sequence Homology, Nucleic Acid; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C416676:ALX4 protein, human; D004268:DNA-Binding Proteins; D014157:Transcription Factors