BRAT1-related disease--identification of a patient without early lethality.

Mundy, Sheraden A; Krock, Bryan L; Mao, Rong; Shen, Joseph J

Mundy, Sheraden A; Krock, Bryan L; Mao, Rong; Shen, Joseph J.

Mundy SA; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, California.
Krock BL; Natera Inc., San Carlos, California.
Mao R; Department of Pathology, University of Utah, Salt Lake City, Utah.
Shen JJ; ARUP Laboratories, Salt Lake City, Utah.

Am J Med Genet A ; 170(3): 699-702, 2016 Mar.

Article en En | MEDLINE | ID: mdl-26494257

Asunto(s)

Estudios de Asociación Genética; Proteínas Nucleares/genética; Alelos; Exoma; Femenino; Heterocigoto; Secuenciación de Nucleótidos de Alto Rendimiento; Humanos; Lactante; Microcefalia/genética; Fenotipo; Convulsiones/genética

Palabras clave

BRAT1 protein, human; apnea; epilepsy; intellectual disability; muscle hypertonia; reflex, abnormal

Texto completo

Imprimir

XML

PubMed Links

Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas Nucleares / Estudios de Asociación Genética Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Infant Idioma: En Año: 2016 Tipo del documento: Article

Texto completo

Imprimir

XML

PubMed Links

Search on Google