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A rare unbalanced translocation (trisomy 5q33.3-qter, monosomy 13q34-qter) results in growth hormone deficiency and brain anomalies.
Joynt, Alyssa C M; Deshwar, Ashish R; Zon, Jessica; Dupuis, Lucie; Wherrett, Diane K; Mendoza-Londono, Roberto.
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  • Joynt ACM; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
  • Deshwar AR; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
  • Zon J; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
  • Dupuis L; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
  • Wherrett DK; Division of Endocrinology, Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
  • Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
Mol Genet Genomic Med ; 9(11): e1821, 2021 11.
Article en En | MEDLINE | ID: mdl-34623774
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Translocación Genética / Encéfalo / Hormona del Crecimiento / Trastornos de los Cromosomas Tipo de estudio: Diagnostic_studies Límite: Female / Humans Idioma: En Revista: Mol Genet Genomic Med Año: 2021 Tipo del documento: Article País de afiliación: Canadá
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Translocación Genética / Encéfalo / Hormona del Crecimiento / Trastornos de los Cromosomas Tipo de estudio: Diagnostic_studies Límite: Female / Humans Idioma: En Revista: Mol Genet Genomic Med Año: 2021 Tipo del documento: Article País de afiliación: Canadá