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Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report.
- Source :
- Clinical Case Reports; Oct2023, Vol. 11 Issue 10, p1-6, 6p
- Publication Year :
- 2023
-
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. [ABSTRACT FROM AUTHOR]
- Subjects :
- ESOPHAGEAL stenosis
DYSPLASIA
SKELETAL dysplasia
GENETIC variation
Subjects
Details
- Language :
- English
- ISSN :
- 20500904
- Volume :
- 11
- Issue :
- 10
- Database :
- Complementary Index
- Journal :
- Clinical Case Reports
- Publication Type :
- Academic Journal
- Accession number :
- 173182208
- Full Text :
- https://doi.org/10.1002/ccr3.8028