Update on the Molecular Genetics of Timothy Syndrome.

Bauer, Rosemary; Timothy, Katherine W; Golden, Andy

Bauer, Rosemary; Timothy, Katherine W; Golden, Andy.

Afiliación

Bauer R; Laboratory of Biochemistry and Genetics, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, MD, United States.
Timothy KW; Timothy Syndrome Alliance, Gloucestershire, United Kingdom.
Golden A; Laboratory of Biochemistry and Genetics, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, MD, United States.

Front Pediatr ; 9: 668546, 2021.

Article en En | MEDLINE | ID: mdl-34079780

Palabras clave

CACNA1C; Cav1.2; Timothy syndrome; arrhythmia; autism spectrum disorder; congenital heart defect; syndactyly; variant

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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Pediatr Año: 2021 Tipo del documento: Article

Texto completo

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XML

PubMed Links

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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Pediatr Año: 2021 Tipo del documento: Article