Research article Open access
Authors
Said Al Balushi
Publications 3
Research article Open access
Letter in Reply: Can We Justify Cystic Fibrosis Mutational Analysis among Omani Neonates?
We appreciate the author’s positive comments about our article published in the March 2021 issue of the Oman Medical Journal. We agree with your suggestion of the justification question on the need for genetic sequencing testing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene for cystic fibrosis …
Research article Open access
A Novel Cystic Fibrosis Gene Mutation C.4242+1G>C in an Omani Patient: A Case Report
Cystic fibrosis (CF) is a genetic disease caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that affects multisystems in the body, particularly the lungs and digestive system. We report a case of an Omani newborn who presented with meconium ileus and high suspicion of CF. Thus, …