ArticleFrontiers in endocrinology2026
Novel cardiac abnormalities observed in CAH patients with tenascin-X haploinsufficiency.
Article in Frontiers in endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Defects in both Objective: This study aimed to determine the frequency of CAH-X within the Munich cohort of CAH patients ( Design/setup: PCR screening for the presence of disease-causing variants in Outcome/conclusion: In our cohort, only 5% carry the CAH-X CH1 chimera. Besides EDS-related clinical symptoms, increased muscle echogenicity compared to unaffected matched controls, particularly in the legs, and cardiac abnormalities that have not been observed in other cohorts and are associated with underlying CAH-X, such as persistent truncus arteriosus and relaxation disorder, were observed. They highlight the importance of genetic as well as clinical screening and regular follow-up examinations for the CAH-X syndrome.
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