Port-wine stains are caused by somatic, mosaic mutations in the GNAQ gene. The pathogenic variant is usually a p.R183Q (c.G548A) mutation in guanine nucleotide binding protein alpha subunit q (GNAQ),
We recruited an AD-MED family with 10 affected members and 17 unaffected members. The main radiographic findings were symmetrical changes in the dysplastic acetabulum and femoral heads, irregular cont
