Genetic Association and Role of Surgery for the Treatment of Lower Limb Deformities in Diastrophic Dysplasia: A Case Report

INTRODUCTION: Diastrophic dysplasia (DTD) results from SCN26A2 gene mutation, with autosomal recessive inheritance and widely variable phenotype. The gene has been mapped to chromosome 5q32-q33.1. CASE REPORT: We present a case of a 4-year-old female with short stature, bilateral feet and knee defor...

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Detalles Bibliográficos
Autores principales: Tripathi, Anchal Kumar, Choudhary, Sunny, Singh, Vivek, Verma, Prashant Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Indian Orthopaedic Research Group 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8180322/
https://www.ncbi.nlm.nih.gov/pubmed/34141677
http://dx.doi.org/10.13107/jocr.2021.v11.i02.2036

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8180322/
https://www.ncbi.nlm.nih.gov/pubmed/34141677
http://dx.doi.org/10.13107/jocr.2021.v11.i02.2036

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