Key points are not available for this paper at this time.
Myhre syndrome is a rare condition caused by a mutation in the SMAD4 gene, which leads to a defective TGF-/BMP signaling, resulting in the proliferation of abnormal fibrous tissues. Clinically, patients with Myhre syndrome manifest with defects of connective tissue (skin, muscles, joints), and cardiovascular and neurological impairment.
Varényiová et al. (Thu,) studied this question.