Distinguishing severe phenotypes associated with pathogenic variants in POLR3A.

Perrier, Stefanie; Gauquelin, Laurence; Wambach, Jennifer A; Bernard, Geneviève

Perrier, Stefanie; Gauquelin, Laurence; Wambach, Jennifer A; Bernard, Geneviève.

Afiliación

Perrier S; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.
Gauquelin L; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.
Wambach JA; Division of Pediatric Neurology, Department of Pediatrics, CHUL et Centre mère-enfant Soleil du CHU de Québec - Université Laval, Québec City, Québec, Canada.
Bernard G; Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, Saint Louis Children's Hospital, Saint Louis, Missouri, USA.

Am J Med Genet A ; 188(2): 708-712, 2022 02.

Article en En | MEDLINE | ID: mdl-34773388

Asunto(s)

ARN Polimerasa III; Humanos; Mutación; Fenotipo; ARN Polimerasa III/genética

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: ARN Polimerasa III Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Canadá

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