title: Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype.
authors.affiliation: Harvard Medical School Genetics Training Program, Boston, Massachussetts.|Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore.
authors.forename: Saumya S
authors.initials: SS
authors.lastname: Jamuar
authors.affiliation: Harvard Medical School Genetics Training Program, Boston, Massachussetts.|Department of Medical Genetics, Yeditepe University School of Medicine, Istanbul, Turkey.
authors.forename: Hatice
authors.initials: H
authors.lastname: Duzkale
authors.affiliation: Department of Medical Genetics, Osmangazi University School of Medicine, Eskisehir, Turkey.
authors.forename: Neslihan
authors.initials: N
authors.lastname: Duzkale
authors.affiliation: Harvard Medical School Genetics Training Program, Boston, Massachussetts.
authors.forename: Chengsheng
authors.initials: C
authors.lastname: Zhang
authors.affiliation: Harvard Medical School Genetics Training Program, Boston, Massachussetts.
authors.forename: Frances A
authors.initials: FA
authors.lastname: High
authors.affiliation: Department of Oral Maxillofacial Surgery, Massachusetts General Hospital, Boston, Massachussetts.
authors.forename: Leonard
authors.initials: L
authors.lastname: Kaban
authors.affiliation: Department of Anesthesia, Massachusetts General Hospital, Boston, Massachussetts.
authors.forename: Soma
authors.initials: S
authors.lastname: Bhattacharya
authors.affiliation: David Geffen School of Medicine at UCLA, Los Angeles, California.
authors.forename: Barbara
authors.initials: B
authors.lastname: Crandall
authors.affiliation: David Geffen School of Medicine at UCLA, Los Angeles, California.
authors.forename: Sibel
authors.initials: S
authors.lastname: Kantarci
authors.affiliation: Division of Genetics, Boston Children's Hospital, Boston, Massachussets.
authors.forename: Joan M
authors.initials: JM
authors.lastname: Stoler
authors.affiliation: Genetics Unit, MassGeneral Hospital for Children, Boston, Massachussets.
authors.forename: Angela E
authors.initials: AE
authors.lastname: Lin
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D016569:Blepharophimosis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002898:Chromosomes, Human, Pair 8; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D056915:DNA Copy Number Variations; D019066:Facies; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D009006:Monosomy; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype