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- Title
Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report.
- Authors
Kimball, Tamara N.; Rivero‐García, Pamela; Pérez González, Bernardo; Reza‐Albarrán, Alfredo Adolfo
- Abstract
Key Clinical Message: Diastrophic dysplasia (DTD) is caused by biallelic pathogenic variants in the SLC26A2 gene. We report the case of a 49‐year‐old female with DTD and esophageal stenosis. This broadens the phenotypic spectrum in adult patients with DTD and raises awareness of extra‐skeletal manifestations that could develop in later stages of life.
- Subjects
ESOPHAGEAL stenosis; DYSPLASIA; SKELETAL dysplasia; GENETIC variation
- Publication
Clinical Case Reports, 2023, Vol 11, Issue 10, p1
- ISSN
2050-0904
- Publication type
Case Study
- DOI
10.1002/ccr3.8028