Year: 2024
Type: article
Study design: Case Report
Abstract: Congenital fibrinogen qualitative disorders, including dysfibrinogenemia and hypo-dysfibrinogenaemia, are highly heterogeneous, both in clinical manifestation and for the mutational molecular spectrum driving these disorders. Correlations between phenotype and genotype remain poorly defined. Considerable work lies ahead in order to achieve diagnostic and prognostic precision and subsequently provide targeted management for this rare disease. Here we report the laboratory test, the clinical and molecular characterisation of a family with dysfibrinogenemia.
Authors: G García-Donas, MT Vargas, C Martínez-Chinchilla, N Alkadi, A Rodríguez
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4405140343