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Primary ciliary dyskinesia due to CCNO mutations : a genotype‐phenotype correla...
Henriques, Ana Raquel; Constant, Carolina; Descalço, Andreia; Pinto, Andreia; Moura Nunes, J.; Sampaio, Pedro; Lopes, Susana S.; Pereira, LuísaPrimary ciliary dyskinesia (PCD) is genetically and clinically heterogeneous. CCNO mutations are associated with chronic destructive lung disease and were first described in 2014. Early reports suggest that CCNO is mutated more frequently than expected, however, these are considered rare. We report on three eleven-year-old children with PCD due to CCNO mutations. All children presented early-onset respiratory s...
Date: 2021
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Origin: Repositório da Universidade de Lisboa