A new study reports an elevated frequency of second-site genomic alterations among children with severe developmental delay who carry a recurrent microdeletion at chromosome 16p12.1. The work ...
Splenomegaly with sea-blue histiocytes, thrombocytopenia and hypertriglyceridemia is a very rare association that has been described in only one report to date. The molecular defect in the two ...
Von Recklinghausen disease is autosomal dominant, but has very variable expressivity among affected individuals (i.e. there is a range of symptoms and signs that occur in different people with NF1).
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