GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia.

Hengel, H; Keimer, R; Deigendesch, W; Rieß, A; Marzouqa, H; Zaidan, J; Bauer, P; Schöls, L

Hengel, H; Keimer, R; Deigendesch, W; Rieß, A; Marzouqa, H; Zaidan, J; Bauer, P; Schöls, L.

Afiliación

Hengel H; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Keimer R; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Deigendesch W; Caritas Baby Hospital, Bethlehem, Palestine.
Rieß A; Caritas Baby Hospital, Bethlehem, Palestine.
Marzouqa H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Zaidan J; Caritas Baby Hospital, Bethlehem, Palestine.
Bauer P; Caritas Baby Hospital, Bethlehem, Palestine.
Schöls L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.

Clin Genet ; 94(3-4): 356-361, 2018 10.

Article en En | MEDLINE | ID: mdl-29882329

Asunto(s)

Encefalopatías/genética; Mutación; Paraplejía Espástica Hereditaria/genética; Transaminasas/genética; Adolescente; Adulto; Niño; Consanguinidad; Femenino; Humanos; Masculino; Linaje

Palabras clave

GPT2; hereditary spastic paraplegia; intellectual and developmental disability; microcephaly

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Encefalopatías / Paraplejía Espástica Hereditaria / Transaminasas / Mutación Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Clin Genet Año: 2018 Tipo del documento: Article País de afiliación: Alemania

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