A disease-causing variant in HNRNPH2 inherited from an unaffected mother with skewed X-inactivation.

White-Brown, Alexandre M; Lemire, Gabrielle; Ito, Yoko A; Thornburg, Olivia; Bain, Jennifer M; Dyment, David A

White-Brown, Alexandre M; Lemire, Gabrielle; Ito, Yoko A; Thornburg, Olivia; Bain, Jennifer M; Dyment, David A.

Afiliación

White-Brown AM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Lemire G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Ito YA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Thornburg O; Department of Neurology, Division of Child Neurology, Columbia University Irving Medical Center, New York, New York City, USA.
Bain JM; Department of Neurology, Division of Child Neurology, Columbia University Irving Medical Center, New York, New York City, USA.
Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

Am J Med Genet A ; 188(2): 668-671, 2022 02.

Article en En | MEDLINE | ID: mdl-34719854

Asunto(s)

Madres; Inactivación del Cromosoma X; Femenino; Ribonucleoproteína Heterogénea-Nuclear Grupo F-H; Humanos; Linaje; Inactivación del Cromosoma X/genética

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Inactivación del Cromosoma X / Madres Límite: Female / 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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