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A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1.
Ishida, Morié; Otero, María G; Freeman, Christina; Sánchez-Lara, Pedro A; Guardia, Carlos M; Pierson, Tyler Mark; Bonifacino, Juan S.
Afiliación
  • Ishida M; Neurosciences and Cellular and Structural Biology Division, Eunice Kennedy Shiver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
  • Otero MG; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
  • Freeman C; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
  • Sánchez-Lara PA; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
  • Guardia CM; Neurosciences and Cellular and Structural Biology Division, Eunice Kennedy Shiver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
  • Pierson TM; Reproductive and Developmental Biology Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27703, USA.
  • Bonifacino JS; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Hum Mol Genet ; 32(7): 1162-1174, 2023 03 20.
Article en En | MEDLINE | ID: mdl-36345169

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Factor 1 de Ribosilacion-ADP / Trastornos del Neurodesarrollo Tipo de estudio: Risk_factors_studies Límite: Animals / Child / Female / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Factor 1 de Ribosilacion-ADP / Trastornos del Neurodesarrollo Tipo de estudio: Risk_factors_studies Límite: Animals / Child / Female / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos