ArticleWorld journal of clinical cases2025
Birt-Hogg-Dubé syndrome - a rare genetic disorder complicated by pneumothorax: A case report.
Article in World journal of clinical cases, 2025. 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
backgroundBirt-Hogg-Dubé (BHD) syndrome is a rare genetic disorder associated with mutations in the CASE SUMMARY: A 42-year-old female patient presented with left-sided chest pain and tightness lasting three days. Chest computed tomography scans revealed left-sided pneumothorax and multiple pulmonary bullae. Physical examination indicated decreased vocal fremitus and tympanic percussion on the left side. A thorough family history revealed a pattern of pulmonary disorders, including emphysema, spontaneous pneumothorax, and lung cancer among relatives. Genetic testing identified a heterozygous frameshift mutation in the
conclusionWe present a case of a heterozygous mutation in the
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