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 ...
The alternative text for this image may have been generated using AI. Patient II-1′ was a female individual born to an unrelated, healthy couple. At the age of 13 years, she manifested facial ...
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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