AI Article Synopsis
- - Congenital fibrinogen disorders (CFDs) vary greatly in how they show up clinically and the genetic causes behind them, making them complex to study.
- - The relationship between a person's specific genetic makeup (genotype) and how the disorder presents itself (phenotype) is still not well understood.
- - Future research will focus on improving genetic sequencing technology to better understand these disorders and enhance diagnosis and treatment options for patients.
Article 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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| http://dx.doi.org/10.1111/bjh.19039 | DOI Listing |
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