A novel missense mutation p.S305R of EDA gene causes XLHED in a Chinese family.
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DOI: 10.1016/j.archoralbio.2019.104507
Abstract: X-linked hypohidrotic ectodermal dysplasia (XLHED) can be characterized by hypohidrosis, sparse hair, hypodontia, and characteristic facial features and is usually caused by mutations of ectodysplasin A (EDA) gene located on the X chromosome. In this… read more here.
Keywords: missense mutation; novel missense; eda gene; mutation ... See more keywords