Case Report: Recurrent Variant c.298 TA in CCN6 Gene Found in Progressive Pseudorheumatoid Dysplasia Patients From Patni Community of Gujarat: A Report of Three Cases

Biallelic mutations in the CCN6 gene are known to cause a rare genetic disorder—progressive pseudorheumatoid dysplasia (PPD). PPD is characterized by distinct joint deformities of interphalangeal joints, stiffness, gait disturbance, abnormal posture, and absence of inflammation, resulting in signifi...

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Detalles Bibliográficos
Autores principales: Sheth, Harsh, Shah, Jhanvi, Nair, Aadhira, Naik, Premal, Sheth, Jayesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8505801/
https://www.ncbi.nlm.nih.gov/pubmed/34650595
http://dx.doi.org/10.3389/fgene.2021.724824

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8505801/
https://www.ncbi.nlm.nih.gov/pubmed/34650595
http://dx.doi.org/10.3389/fgene.2021.724824

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