X-linked Spondyloepiphyseal Dysplasia Tarda with Mutation in TRAPPC2Gene: First Report from India

INTRODUCTION: X-linked spondyloepiphyseal dysplasia tarda(SEDT) is a type of shorttrunk skeletal dysplasia, occurring in males due to mutation in TRAPPC2 gene. CASE REPORT: We describe a large Indian family with multiple males affected with X-linked SEDT. The affected individuals presented with disp...

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Detalles Bibliográficos
Autores principales: Tamhankar, Parag M, Kulkarni, Abhishek, Vasudevan, Lakshmi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Indian Orthopaedic Research Group 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7476708/
https://www.ncbi.nlm.nih.gov/pubmed/32953644
http://dx.doi.org/10.13107/jocr.2020.v10.i02.1670

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7476708/
https://www.ncbi.nlm.nih.gov/pubmed/32953644
http://dx.doi.org/10.13107/jocr.2020.v10.i02.1670

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