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Familial genotypic and phenotypic heterogeneity and its implications on genetic counseling exemplified in two cases of hereditary pyropoikilocytosis/erythrocytic spectrin-linked hemolytic anemia masquerading as congenital dyserythropoietic anemia.
Jamwal, Manu; Aggarwal, Anu; Sharma, Prashant; Bansal, Deepak; Trehan, Amita; Sachdeva, Man Updesh Singh; Naseem, Shano; Maitra, Arindam; Das, Reena.
Afiliación
  • Jamwal M; Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
  • Aggarwal A; Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
  • Sharma P; Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
  • Bansal D; Department of Pediatrics (Hematology-Oncology Unit), Post Graduate Institute of Medical Education and Research, Chandigarh, India.
  • Trehan A; Department of Pediatrics (Hematology-Oncology Unit), Post Graduate Institute of Medical Education and Research, Chandigarh, India.
  • Sachdeva MUS; Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
  • Naseem S; Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
  • Maitra A; National Institute of Biomedical Genomics, Kalyani, West Bengal, India.
  • Das R; Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Pediatr Blood Cancer ; 68(10): e29181, 2021 10.
Article en En | MEDLINE | ID: mdl-34117698
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Eliptocitosis Hereditaria / Asesoramiento Genético / Anemia Diseritropoyética Congénita / Anemia Hemolítica Congénita Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Pediatr Blood Cancer Asunto de la revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Año: 2021 Tipo del documento: Article País de afiliación: India
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Eliptocitosis Hereditaria / Asesoramiento Genético / Anemia Diseritropoyética Congénita / Anemia Hemolítica Congénita Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Pediatr Blood Cancer Asunto de la revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Año: 2021 Tipo del documento: Article País de afiliación: India