Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene.

Bayat, Allan; Kirchhoff, Maria; Madsen, Camilla G; Roos, Laura; Kreiborg, Sven

Bayat, Allan; Kirchhoff, Maria; Madsen, Camilla G; Roos, Laura; Kreiborg, Sven.

Affiliation

Bayat A; aDepartment of Pediatrics, University Hospital of Hvidovre, Hvidovre bDepartment of Clinical Genetics c3D Craniofacial Image Research Laboratory, School of Dentistry, Copenhagen University Hospital Rigshospitalet dDepartment of Radiology, Centre for Functional and Diagnostic Imaging and Research, Hvidovre Hospital, University of Copenhagen, Copenhagen, Denmark eDepartment of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Faculty of Health and Medical Sciences.

Clin Dysmorphol ; 26(3): 148-153, 2017 Jul.

Article in En | MEDLINE | ID: mdl-28452798

Subject(s)

Chromosome Deletion; Craniofacial Abnormalities/diagnosis; Craniofacial Abnormalities/genetics; Genetic Association Studies; NFI Transcription Factors/genetics; Polymicrogyria/diagnosis; Polymicrogyria/genetics; Child; Chromosome Mapping; Facies; Female; High-Throughput Nucleotide Sequencing; Humans; Magnetic Resonance Imaging; Pedigree

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosome Deletion / Craniofacial Abnormalities / NFI Transcription Factors / Genetic Association Studies / Polymicrogyria Type of study: Prognostic_studies / Risk_factors_studies Limits: Child / Female / Humans Language: En Journal: Clin Dysmorphol Journal subject: TERATOLOGIA Year: 2017 Document type: Article

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