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Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway.
Klein, Steven D; Nguyen, Dzung C; Bhakta, Viraj; Wong, Derek; Chang, Vivian Y; Davidson, Tom B; Martinez-Agosto, Julian A.
Afiliación
  • Klein SD; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.
  • Nguyen DC; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.
  • Bhakta V; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.
  • Wong D; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.
  • Chang VY; Division of Hematology-Oncology, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.
  • Davidson TB; Jonsson Comprehensive Cancer Center, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.
  • Martinez-Agosto JA; Division of Hematology-Oncology, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.
Am J Med Genet A ; 179(12): 2517-2531, 2019 12.
Article en En | MEDLINE | ID: mdl-31639285

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Transducción de Señal / Fosfatidilinositol 3-Quinasas / Proteínas Proto-Oncogénicas c-akt / Proteínas Hedgehog / Megalencefalia / Serina-Treonina Quinasas TOR / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Transducción de Señal / Fosfatidilinositol 3-Quinasas / Proteínas Proto-Oncogénicas c-akt / Proteínas Hedgehog / Megalencefalia / Serina-Treonina Quinasas TOR / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article