A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family

Background: Progressive pseudorheumatoid dysplasia (PPRD) inherited in an autosomal recessive fashion, is a disabling disease, characterized by platyspondyly, irregularities of the vertebral bodies, narrowing of the intervertebral discs and intraarticular spaces, widening of the epiphysis-metaphysis...

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Detalles Bibliográficos
Autores principales: Gaboon, Nagwa E. A., Parveen, Asia, El Beheiry, Ahmed, Al-Aama, Jumana Y., Alsaedi, Mosab S., Wasif, Naveed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6604515/
https://www.ncbi.nlm.nih.gov/pubmed/31294002
http://dx.doi.org/10.3389/fped.2019.00245

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6604515/
https://www.ncbi.nlm.nih.gov/pubmed/31294002
http://dx.doi.org/10.3389/fped.2019.00245

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