Esophageal Stricture and Dermal Pathology Related to Compound Heterozygous Mutations in the TNXB Gene
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The Ehlers-Danlos' syndrome (EDS) constitutes a group of connective tissue disorders that are clinically and genetically heterogeneous. Mutations in the TNXB gene have been recognized as pathogenic causing classical-like EDS due to tenascin-X deficiency. Here,... ...
