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An Indian child with Coats plus syndrome due to mutations in STN1.
Passi, Gouri Rao; Shamim, Uzma; Rathore, Surabhi; Joshi, Aditi; Mathur, Aradhana; Parveen, Shaista; Sharma, Pooja; Crow, Yanick J; Faruq, Mohammed.
Afiliación
  • Passi GR; Department of Pediatrics, Choithram Hospital & Research Centre, Indore, India.
  • Shamim U; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Delhi, India.
  • Rathore S; Computational Structural Biology Lab, CSIR-Institute of Genomics and Integrative Biology, Delhi, India.
  • Joshi A; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Delhi, India.
  • Mathur A; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Delhi, India.
  • Parveen S; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Delhi, India.
  • Sharma P; Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology, Delhi, India.
  • Crow YJ; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France.
  • Faruq M; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Am J Med Genet A ; 182(9): 2139-2144, 2020 09.
Article en En | MEDLINE | ID: mdl-32627942
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedades de la Retina / Ataxia / Convulsiones / Neoplasias Encefálicas / Calcinosis / Quistes del Sistema Nervioso Central / Proteínas de Unión a Telómeros / Leucoencefalopatías / Espasticidad Muscular Límite: Female / Humans / Infant Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: India
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedades de la Retina / Ataxia / Convulsiones / Neoplasias Encefálicas / Calcinosis / Quistes del Sistema Nervioso Central / Proteínas de Unión a Telómeros / Leucoencefalopatías / Espasticidad Muscular Límite: Female / Humans / Infant Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: India