Homozygous Deletion of the CFTR Gene Caused by Interstitial Maternal Isodisomy in a Peruvian Child with Cystic Fibrosis
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We report the first case in Peru of cystic fibrosis caused by a homozygous deletion of the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene. A 10-month-old child who presented with meconium ileus and pancreatic insufficiency was tested for cys... ...
