Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion.

Ronan, Anne; Buiting, Karin; Dudding, Tracy

Ronan, Anne; Buiting, Karin; Dudding, Tracy.

Affiliation

Ronan A; Hunter Genetics Unit, Waratah, NSW, Australia. anne.ronan@hnehealth.nsw.gov.au

Am J Med Genet A ; 146A(1): 78-82, 2008 Jan 01.

Article in En | MEDLINE | ID: mdl-17975803

Subject(s)

Angelman Syndrome/etiology; Genomic Imprinting; Sequence Deletion; Adolescent; Angelman Syndrome/diagnosis; Autoantigens/genetics; Autoantigens/metabolism; Autoradiography; Base Sequence; Blotting, Southern; Chromosome Mapping; Chromosomes, Human, Pair 15; Exons; Humans; Male; Middle Aged; Molecular Sequence Data; Nuclear Proteins/genetics; Pedigree; Polymerase Chain Reaction; Ribonucleoproteins, Small Nuclear/genetics; Ribonucleoproteins, Small Nuclear/metabolism; Sequence Analysis, DNA; Siblings; snRNP Core Proteins

Search on Google

XML

PubMed Links

Database: MEDLINE Main subject: Sequence Deletion / Angelman Syndrome / Genomic Imprinting Type of study: Diagnostic_studies Limits: Adolescent / Humans / Male / Middle aged Language: En Year: 2008 Type: Article

Search on Google

XML

PubMed Links