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Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease.
Deshwar, Ashish R; Spielmann, Malte; Vi, Lisa; Mendoza-Londono, Roberto; Dupuis, Lucie; Stimec, Jennifer; Howard, Andrew; Harrington, Jennifer; Kannu, Peter.
Afiliación
  • Deshwar AR; Division of Clinical and Metabolic Genetics and University of Toronto, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Spielmann M; Medical Genetics Residency Training Program, University of Toronto, Toronto, Ontario, Canada.
  • Vi L; Department of Genome Sciences, University of Washington, Seattle, Western Australia.
  • Mendoza-Londono R; Program in Developmental and Stem Cell Biology, University of Toronto, Canada.
  • Dupuis L; Division of Clinical and Metabolic Genetics and University of Toronto, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Stimec J; Division of Clinical and Metabolic Genetics and University of Toronto, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Howard A; Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Harrington J; Division of Orthopaedics, University of Toronto and The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Kannu P; Division of Endocrinology, Department of Paediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Am J Med Genet A ; 179(4): 663-667, 2019 04.
Article en En | MEDLINE | ID: mdl-30803154
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Secuencias Reguladoras de Ácidos Nucleicos / Proteína Relacionada con la Hormona Paratiroidea / Hiperparatiroidismo / Mutación Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Canadá
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Secuencias Reguladoras de Ácidos Nucleicos / Proteína Relacionada con la Hormona Paratiroidea / Hiperparatiroidismo / Mutación Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Canadá