Article
Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype.
American journal of medical genetics. Part A - 1 Oct 2010
Concolino D, Roversi G, Muzzi G L, Sestito S, Colombo E A, Volpi L, Larizza L, Strisciuglio P
Abstract excerpt
We report on three sibs who have autosomal recessive Clericuzio-type poikiloderma neutropenia (PN) syndrome. Recently, this consanguineous family was reported and shown to be informative in identifying the C16orf57 gene as the causative gene for this syndrome. Here we present the clinical data in detail. PN is a distinct and recognizable entity belonging to the group of poikiloderma syndromes among which...
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