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

• Asıl Yazarlar: Nagwa E. A. Gaboon (Yazar), Asia Parveen (Yazar), Ahmed El Beheiry (Yazar), Jumana Y. Al-Aama (Yazar), Mosab S. Alsaedi (Yazar), Naveed Wasif (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Frontiers Media S.A., 2019-06-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

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...