Esophageal stenosis in an adult Mexican patient with diastrophic dysplasia: Case report

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 d...

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Detalles Bibliográficos
Autores principales: Kimball, Tamara N., Rivero‐García, Pamela, Pérez González, Bernardo, Reza‐Albarrán, Alfredo Adolfo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593974/
https://www.ncbi.nlm.nih.gov/pubmed/37881199
http://dx.doi.org/10.1002/ccr3.8028

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593974/
https://www.ncbi.nlm.nih.gov/pubmed/37881199
http://dx.doi.org/10.1002/ccr3.8028

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