A novel missense variant in CHD7, a rare cause of CHARGE syndrome.

Joslyn, Peter; Meddaugh, Hannah; Torres, Jairo; Patrick-Esteve, Jessica; Olister, Staci; Mumphrey, Christy; Zambrano, Regina

Joslyn, Peter; Meddaugh, Hannah; Torres, Jairo; Patrick-Esteve, Jessica; Olister, Staci; Mumphrey, Christy; Zambrano, Regina.

Afiliación

Joslyn P; Department of Pediatrics, Division of Neonatology, Louisiana State University Health Sciences Center New Orleans.
Meddaugh H; Department of Genetics, Children's Hospital New Orleans.
Torres J; Department of Otolaryngology, Louisiana State University Health Sciences Center New Orleans.
Patrick-Esteve J; Department of Pediatrics, Division of Neonatology, Louisiana State University Health Sciences Center New Orleans.
Olister S; Department of Pediatrics, Division of Neonatology, Louisiana State University Health Sciences Center New Orleans.
Mumphrey C; Department of Pediatrics, Division of Neonatology, Louisiana State University Health Sciences Center New Orleans.
Zambrano R; Department of Pediatrics, Division of Genetics, Louisiana State University Health Sciences Center New Orleans, New Orleans, Louisiana, USA.

Clin Dysmorphol ; 29(3): 158-160, 2020 Jul.

Article en En | MEDLINE | ID: mdl-31929333

Asunto(s)

Síndrome CHARGE/etiología; Síndrome CHARGE/genética; ADN Helicasas/genética; Proteínas de Unión al ADN/genética; Mutación Missense; Síndrome CHARGE/diagnóstico; ADN Helicasas/metabolismo; Proteínas de Unión al ADN/metabolismo; Humanos; Lactante; Masculino

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: ADN Helicasas / Mutación Missense / Proteínas de Unión al ADN / Síndrome CHARGE Tipo de estudio: Diagnostic_studies Límite: Humans / Infant / Male Idioma: En Revista: Clin Dysmorphol Asunto de la revista: TERATOLOGIA Año: 2020 Tipo del documento: Article

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