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Though currently the majority of evidence is from pedigree analyses or case studies, this clinical annotation has been given a level 1B due to the number of supporting studies, the existence of a mechanistic explanation supporting this association, and the appearance of this variant in OMIM (http://omim.org/entry/561000#0001) and Gene Reviews (http://www.ncbi.nlm.nih.gov/books/NBK1422/).