2 documents found, page 1 of 1
ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meni...
Ferreira, MJ; Pedro, J; Salazar, D; Costa, C; Aragão Rodrigues, J; Costa, MM; Grangeia, A; Castedo, JL; Carvalho, DPrimary bilateral adrenal macronodular hyperplasia is characterized by functioning adrenal macronodules and variable cortisol secretion. Familial clustering suggests a genetic cause that has been confirmed with the identification of some genetic mutations, including inactivating germline mutations, in armadillo repeat containing 5 (ARMC5) gene. The identification of the pathogenic variant enables the physician ...
Spectrum of CFTR gene sequence variants in a northern Portugal population
Grangeia, A; Alves, S; Gonçalves, L; Gregório, I; Santos, AC; Barros, H; Barros, A; Carvalho, F; Moura, CIn Portugal, the spectrum of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variants is not known. The main objective of this work was to determine the type and frequency of CFTR variants in a sample from northern Portugal by the complete analysis of the CFTR coding sequencing performed in 512 Portuguese children. A total of 30 different CFTR sequence variants, already reported as cystic fibros...