Associated Papers
Unique Mechanism by Which TGFBR1 Variants Cause 2 Distinct System Diseases - Loeys-Dietz Syndrome and Multiple Self-Healing Squamous Epithelioma.
Fujiwara T et al.
Circulation Reports, 2019
Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma.
Fujiwara T et al.
European Journal of Human Genetics : Ejhg, 2018
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