title: A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome.
authors.affiliation: aDepartment of Clinical Genetics bDepartment of Paediatrics, Christian Medical College, MGR University, Tamil Nadu, India.
authors.forename: Gautham
authors.initials: G
authors.lastname: Arunachal
authors.forename: Sumita
authors.initials: S
authors.lastname: Danda
authors.forename: Sabita
authors.initials: S
authors.lastname: Omprakash
authors.forename: Sathish
authors.initials: S
authors.lastname: Kumar
mesh_terms: D001921:Brain / Q000473:pathology; D003398:Craniosynostoses / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D004452:Echocardiography; D019066:Facies; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: C473949:ASXL1 protein, human; D012097:Repressor Proteins