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 ...
Three symptomatic members of a family underwent a detailed ophthalmic evaluation including best-corrected distance and near-vision measurement, colour vision assessment, fundus evaluation and ...
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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