A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies.

Lessel, Davor; Rading, Katrin; Campbell, Susan E; Thiele, Holger; Altmüller, Janine; Gordon, Leslie B; Kubisch, Christian

Lessel, Davor; Rading, Katrin; Campbell, Susan E; Thiele, Holger; Altmüller, Janine; Gordon, Leslie B; Kubisch, Christian.

Afiliação

Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Rading K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Campbell SE; Center for Gerontology and Healthcare Research, Brown University, Providence, Rhode Island, USA.
Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
Gordon LB; Berlin Institute of Health, Charité-Universitätsmedizin Berlin, Core Facility Genomics, Berlin, Germany.
Kubisch C; The Genomics unit, Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.

Am J Med Genet A ; 188(1): 216-223, 2022 01.

Article em En | MEDLINE | ID: mdl-34611991

Assuntos

Atrofia Óptica; Progéria; Ataxias Espinocerebelares; Adolescente; Adulto; Ataxia; Feminino; Humanos; Recém-Nascido; Progéria/patologia; RNA Polimerase III/genética

Palavras-chave

POLR3A; Wiedemann-Rautenstrauch syndrome; leaky splicing; phenotypic continuum; synonymous variant

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Progéria / Atrofia Óptica / Ataxias Espinocerebelares Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Female / Humans / Newborn Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha

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