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.
摘要：
先天性纤维蛋白原疾病或CFDs是异质性的，无论是临床表现还是罪犯分子病变。表型和基因型之间的相关性仍然不明确。这篇评论研究了迄今为止针对这种罕见情况发现的遗传景观。提出了可能影响表型异质性的遗传的寡基因模型的问题，讨论了用于增强该领域发现的测序技术的好处和挑战。为了实现诊断和预后的准确性，并随后为这个复杂的患者队列提供针对性的管理，还有大量的工作要做。
