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Article

Congenital fibrinogen disorders: Strengthening genotype-phenotype correlations through novel genetic diagnostic tools.

British journal of haematology - 1 Nov 2023

Ramanan Radha, McFadyen James D, Perkins Andrew C, Tran Huyen A

Abstract excerpt

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...

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PMID: 37583269
DOI: 10.1111/bjh.19039

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