research Novel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
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2 / 2 resultsresearch Myotonic Dystrophy: A Progeroid Disease?
Myotonic dystrophy may be classified as a segmental progeroid disorder.
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