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Congenital fibrinogen disorders: Strengthening genotype-phenotype correlations through novel genetic diagnostic tools.
Ramanan, Radha; McFadyen, James D; Perkins, Andrew C; Tran, Huyen A.
Afiliación
  • Ramanan R; Department of Haematology, Alfred Hospital, Melbourne, Victoria, Australia.
  • McFadyen JD; Australian Centre for Blood Diseases, Monash University, Melbourne, Victoria, Australia.
  • Perkins AC; Department of Pathology, Alfred Hospital, Melbourne, Victoria, Australia.
  • Tran HA; Department of Haematology, Alfred Hospital, Melbourne, Victoria, Australia.
Br J Haematol ; 203(3): 355-368, 2023 Nov.
Article en En | MEDLINE | ID: mdl-37583269
ABSTRACT
Congenital fibrinogen disorders or CFDs are heterogenous, both in clinical manifestation and array of culprit molecular lesions. Correlations between phenotype and genotype remain poorly defined. This review examines the genetic landscape discovered to date for this rare condition. The question of a possible oligogenic model of inheritance influencing phenotypic heterogeneity is raised, with discussion of the benefits and challenges of sequencing technology used to enhance discovery in this space. Considerable work lies ahead in order to achieve diagnostic and prognostic precision and subsequently provide targeted management to this complex cohort of patients.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Br J Haematol Año: 2023 Tipo del documento: Article País de afiliación: Australia

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Br J Haematol Año: 2023 Tipo del documento: Article País de afiliación: Australia
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