Clinical utility gene card for: 16p12.2 microdeletion.

Pizzo, Lucilla; Andrieux, Joris; Amor, David J; Girirajan, Santhosh

Pizzo, Lucilla; Andrieux, Joris; Amor, David J; Girirajan, Santhosh.

Affiliation

Pizzo L; Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA.
Andrieux J; Institut de Génétique Médicale, CHRU de Lille, Lille, France.
Amor DJ; Department of Paediatrics, Murdoch Childrens Research Institute, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia.
Girirajan S; Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA.

Eur J Hum Genet ; 25(2)2017 02.

Article in En | MEDLINE | ID: mdl-27848943

Subject(s)

Chromosome Deletion; Chromosome Disorders/genetics; Craniofacial Abnormalities/genetics; Heart Defects, Congenital/genetics; Apoptosis Regulatory Proteins/genetics; Chromosome Disorders/diagnosis; Chromosomes, Human, Pair 16/genetics; Craniofacial Abnormalities/diagnosis; Developmental Disabilities/diagnosis; Developmental Disabilities/genetics; Electron Transport Complex III/genetics; Elongation Factor 2 Kinase/genetics; Genetic Testing/methods; Genetic Testing/standards; Heart Defects, Congenital/diagnosis; Humans; Mental Disorders/diagnosis; Mental Disorders/genetics; Nerve Tissue Proteins/genetics; RNA Polymerase III/genetics

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Full text: 1 Collection: 01-internacional Health context: 2_ODS3 / 6_ODS3_enfermedades_notrasmisibles Database: MEDLINE Main subject: Chromosome Deletion / Craniofacial Abnormalities / Chromosome Disorders / Heart Defects, Congenital Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Eur J Hum Genet Year: 2017 Document type: Article

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