Kaleido Scope1 年
Next Gen Sequencing of 17 RASopathy related genes and Deletion/Duplication analysis (RAS-NG)
Patients with clinical features suggestive of either NS, NSML, CFC, NF1, Legius syndrome or Noonan-like syndrome; patients with a clinical diagnosis of any of these syndromes that previously tested ...
Kaleido Scope1 年
A Discussion of Revised Diagnostic Criteria Released for NF1 and Legius Syndrome
In May, revised diagnostic criteria for NF1 were published in Genetics in Medicine, the journal of the American College of Medical Genetics and Genomics (Revised diagnostic criteria for ...