Esophageal Stricture and Dermal Pathology Related to Compound Heterozygous Mutations in the TNXB Gene
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DOI: 10.1055/s-0041-1724048
Abstract: 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,… read more here.
Keywords: tnxb gene; compound heterozygous; esophageal stricture; pathology ... See more keywords