Severe infantile male encephalopathy is a result of early post-zygotic WDR45 somatic mutation.

Spiegel, R; Shalev, S; Bercovich, D; Rabinovich, D; Khayat, M; Shaag, A; Elpeleg, O

Spiegel, R; Shalev, S; Bercovich, D; Rabinovich, D; Khayat, M; Shaag, A; Elpeleg, O.

Afiliação

Spiegel R; Department of Pediatrics B, Genetic Institute, Afula, Israel.
Shalev S; Genetic Institute, Afula, Israel.
Bercovich D; Department of Pediatrics B, Genetic Institute, Afula, Israel.
Rabinovich D; Rappaport School of Medicine, Technion, Haifa, Israel.
Khayat M; GGA Laboratories, Kazrin, Israel.
Shaag A; Tel-Hai College, Tel-Hai, Israel.
Elpeleg O; GGA Laboratories, Kazrin, Israel.

Clin Genet ; 90(6): 560-562, 2016 12.

Article em En | MEDLINE | ID: mdl-27681470

Assuntos

Encefalopatias/genética; Proteínas de Transporte/genética; Mutação; Humanos; Masculino; Zigoto

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Proteínas de Transporte / Mutação Limite: Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article

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