Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.

McDonell, Laura M; Mirzaa, Ghayda M; Alcantara, Diana; Schwartzentruber, Jeremy; Carter, Melissa T; Lee, Leo J; Clericuzio, Carol L; Graham, John M; Morris-Rosendahl, Deborah J; Polster, Tilman; Acsadi, Gyula; Townshend, Sharron; Williams, Simon; Halbert, Anne; Isidor, Bertrand; David, Albert; Smyser, Christopher D; Paciorkowski, Alex R; Willing, Marcia; Woulfe, John; Das, Soma; Beaulieu, Chandree L; Marcadier, Janet; Geraghty, Michael T; Frey, Brendan J; Majewski, Jacek; Bulman, Dennis E; Dobyns, William B; O'Driscoll, Mark; Boycott, Kym M

McDonell, Laura M; Mirzaa, Ghayda M; Alcantara, Diana; Schwartzentruber, Jeremy; Carter, Melissa T; Lee, Leo J; Clericuzio, Carol L; Graham, John M; Morris-Rosendahl, Deborah J; Polster, Tilman; Acsadi, Gyula; Townshend, Sharron; Williams, Simon; Halbert, Anne; Isidor, Bertrand; David, Albert; Smyser, Christopher D; Paciorkowski, Alex R; Willing, Marcia; Woulfe, John; Das, Soma; Beaulieu, Chandree L; Marcadier, Janet; Geraghty, Michael T; Frey, Brendan J; Majewski, Jacek; Bulman, Dennis E; Dobyns, William B; O'Driscoll, Mark; Boycott, Kym M.

Affiliation

McDonell LM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

Nat Genet ; 45(5): 556-62, 2013 May.

Article in En | MEDLINE | ID: mdl-23542699

Subject(s)

Capillaries/pathology; Developmental Disabilities/genetics; Endosomal Sorting Complexes Required for Transport/genetics; Epilepsy/genetics; Microcephaly/genetics; Mutation/genetics; Skin Diseases/genetics; Ubiquitin Thiolesterase/genetics; Case-Control Studies; Child, Preschool; Cohort Studies; Developmental Disabilities/pathology; Endosomal Sorting Complexes Required for Transport/antagonists & inhibitors; Endosomal Sorting Complexes Required for Transport/metabolism; Epilepsy/pathology; Exome/genetics; Female; Fluorescent Antibody Technique, Indirect; Genes, Recessive; Genome, Human; Genotype; Humans; Infant; Male; Microcephaly/pathology; RNA, Small Interfering/genetics; Skin Diseases/pathology; Syndrome; Ubiquitin Thiolesterase/antagonists & inhibitors; Ubiquitin Thiolesterase/metabolism

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Full text: 1 Database: MEDLINE Main subject: Skin Diseases / Capillaries / Developmental Disabilities / Ubiquitin Thiolesterase / Epilepsy / Endosomal Sorting Complexes Required for Transport / Microcephaly / Mutation Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Child, preschool / Female / Humans / Infant / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2013 Type: Article Affiliation country: Canada

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