Niejednoznaczna diagnoza mukowiscydozy u dzieci z pozytywnym wynikiem badania przesiewowego

Conclusions The introduction of CF NBS has not only enabled early diagnosis of CF, but has also helped to detect changes in the CFTR with unclear clinical consequences. Changes are necessary, in order to reduce the detection of mutations of unclear phenotypic consequences.
Source: Pediatria Polska - Category: Pediatrics Source Type: research