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Compound Heterozygous Mutations in FGA Cause Congenital Afibrinogenemia: A Case Report and Literature Review

Sep 2026 · Birth Defects Research · Vol 118 · 0 citations · 23 references
Medicine

Abstract

Congenital afibrinogenemia is an extremely rare autosomal recessive bleeding disorder with an estimated incidence of one in one million, caused by mutations in the fibrinogen‐encoding genes.

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