Uncommon clinical presentation of cystic fibrosis in a patient homozygous for a rare CFTR mutation: a case report

被引：0
作者：
Joanna Jaworska
Aleksandra Marach-Mocarska
Dorota Sands
机构：
[1] Institute of Mother and Child,
[2] Cystic Fibrosis Department,undefined
[3] Children’s Memorial Health Institute,undefined
[4] Department of Gastroenterology,undefined
[5] Hepatology,undefined
[6] Feeding Disorders and Pediatrics,undefined
来源：
BMC Pediatrics | / 20卷
关键词：
Cystic fibrosis; CF; Metabolic acidosis; Case report; Genetic testing;
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