Nagwa E A Gaboon Asia Parveen Ahmed El Beheiry Jumana Y Al-Aama Mosab S Alsaedi Naveed Wasif
10.3389/fped.2019.00245
Front Pediatr
2019 Jun 25;7:245.
ccn6 nonsense mediated decay consanguinity novel frameshift mutation progressive pseudorheumatoid dysplasia (pprd)
CC BY
https://pubmed.ncbi.nlm.nih.gov/31294002/
Case Reports
PMC6604515
31294002
A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family
2019