#MyhreSyndrome in Adulthood
#SMAD4
N=24
Genotype-Phenotype associations
6 with progressive arterial/aortic stenosis
9 with cardiac diseases
Face2Gene - #FacialGenotyping
Use AI to detect facial traits of genetic diseases
#ejhg_journal 2024 @markelindsay.bsky.social
www.nature.com/articles/s41...
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