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Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis.
Byers, Heather M; Jensen, Dana M; Glass, Ian A; Bennett, James T.
Afiliación
  • Byers HM; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California.
  • Jensen DM; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington.
  • Glass IA; Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington.
  • Bennett JT; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington.
Am J Med Genet C Semin Med Genet ; 178(3): 374-378, 2018 09.
Article en En | MEDLINE | ID: mdl-30260069
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Esclerosis Tuberosa / Encéfalo / Proteína 2 del Complejo de la Esclerosis Tuberosa / Mosaicismo Tipo de estudio: Diagnostic_studies Límite: Adolescent / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet C Semin Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Esclerosis Tuberosa / Encéfalo / Proteína 2 del Complejo de la Esclerosis Tuberosa / Mosaicismo Tipo de estudio: Diagnostic_studies Límite: Adolescent / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet C Semin Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article