Article
Little phenotypic variability in three CF sibs compound heterozygous for the 621 + 1G-->T and the 711 + 1G-->T mutations.
Clinical genetics - 1 Mar 1997
De Braekeleer M, Simard F, Aubin G
Abstract excerpt
We describe a family in which three sibs are compound heterozygotes for two rather rare CFTR splice-site mutations, the 621 + 1G-->T and the 711 + 1G-->T mutations. Little phenotypic variation was observed between sibs, of whom two are deceased. Their disease is characterized by pancreatic insufficiency, a severe pulmonary involvement and major growth retardation.
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