title: Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation.
authors.affiliation: Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
authors.forename: Ariana
authors.initials: A
authors.lastname: Kariminejad
authors.forename: Bita
authors.initials: B
authors.lastname: Bozorgmehr
authors.forename: Houman
authors.initials: H
authors.lastname: Alizadeh
authors.forename: Siavash
authors.initials: S
authors.lastname: Ghaderi-Sohi
authors.forename: Güven
authors.initials: G
authors.lastname: Toksoy
authors.forename: Zehra Oya
authors.initials: ZO
authors.lastname: Uyguner
authors.forename: Hülya
authors.initials: H
authors.lastname: Kayserili
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000483:Alleles; D000505:Alopecia / Q000235:genetics; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D056426:Genetic Loci; D006720:Homozygote; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D008279:Magnetic Resonance Imaging; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012867:Skin / Q000473:pathology; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C416676:ALX4 protein, human; D004268:DNA-Binding Proteins; D014157:Transcription Factors