Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]

Synonyms and keywords: Pseudoxanthoma elasticum- like disorder with multiple coagulation factor deficiency

Overview

Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency is caused by homozygous or compound heterozygous mutation in the gene encoding gamma-glutamyl carboxylase on chromosome 2p11.