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pro vyhledávání: '"Petra Drencakova"'
Autor:
Simona Drobnakova, Veronika Vargova, Jana Smolova, Petra Drencakova, Maria Giertlova, Maria Pisarcikova, László Barkai
Publikováno v:
Respiratory Medicine Case Reports, Vol 50, Iss , Pp 102034- (2024)
Pathogenic variants of SP-C, which cause various lung diseases with varying ages of onset, are inherited in an autosomal dominant manner or appear de novo as new mutations. We present a case of fatal respiratory failure in a female infant. Genetic an
Externí odkaz:
https://doaj.org/article/b7e60a4072d045c3974332ecf36c3bf5