Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.

McGovern, M; Flanagan, O; Lynch, B; Lynch, S A; Allen, N M

McGovern, M; Flanagan, O; Lynch, B; Lynch, S A; Allen, N M.

Affiliation

McGovern M; Department of Paediatrics, National University of Ireland Galway & Galway University Hospital, Galway, Ireland.
Flanagan O; Department of Paediatrics, National University of Ireland Galway & Galway University Hospital, Galway, Ireland.
Lynch B; Department of Paediatric Neurology, Temple Street Children's University Hospital, Dublin, Ireland.
Lynch SA; Department of Clinical Genetics, Our Lady's Children's Hospital, Dublin, Ireland.
Allen NM; Department of Paediatrics, National University of Ireland Galway & Galway University Hospital, Galway, Ireland.

Clin Genet ; 92(4): 447-448, 2017 Oct.

Article in En | MEDLINE | ID: mdl-28542708

Subject(s)

Arthritis, Juvenile/genetics; Collagen Type IV/genetics; Collagen/metabolism; Porencephaly/genetics; Arthritis, Juvenile/complications; Arthritis, Juvenile/physiopathology; Bone Diseases, Developmental; Brain/metabolism; Brain/physiopathology; Collagen/biosynthesis; Collagen/genetics; Craniofacial Abnormalities; Female; Heterozygote; Humans; Hyperostosis; Hypertelorism; Male; Mutation; Pedigree; Phenotype; Porencephaly/complications; Porencephaly/physiopathology

Key words

COL4A2; arthritis; cerebral palsy; genetics; neurology

Fulltext

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthritis, Juvenile / Collagen / Collagen Type IV / Porencephaly Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Clin Genet Year: 2017 Type: Article Affiliation country: Ireland

Fulltext

XML

PubMed Links

Search on Google