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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Auteurs principaux:	Nagwa E. A. Gaboon, Asia Parveen, Ahmed El Beheiry, Jumana Y. Al-Aama, Mosab S. Alsaedi, Naveed Wasif
Format:	Artigo
Langue:	Inglês
Publié:	Frontiers Media S.A. 2019-06-01
Collection:	Frontiers in Pediatrics
Sujets:	progressive pseudorheumatoid dysplasia (PPRD) consanguinity novel frameshift mutation CCN6 Nonsense Mediated Decay
Accès en ligne:	https://www.frontiersin.org/article/10.3389/fped.2019.00245/full
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