A familial case of <i>CAMK2B</i> mutation with variable expressivity.

Heiman, Paige; Drewes, Sarah; Ghaloul-Gonzalez, Lina

A familial case of CAMK2B mutation with variable expressivity.

Heiman, Paige; Drewes, Sarah; Ghaloul-Gonzalez, Lina.

Afiliação

Heiman P; Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Drewes S; Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.
Ghaloul-Gonzalez L; Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.

SAGE Open Med Case Rep ; 9: 2050313X21990982, 2021.

Article em En | MEDLINE | ID: mdl-33796307

Palavras-chave

CAMK2B; familial mutation; neurodevelopmental disease; seizures; variable expression

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: SAGE Open Med Case Rep Ano de publicação: 2021 Tipo de documento: Article

Texto completo

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XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: SAGE Open Med Case Rep Ano de publicação: 2021 Tipo de documento: Article