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Case of Conradi-Hünermann-Happle syndrome due to a nonsense mutation of c.245G>A (p.W82*)
Case of Conradi-Hünermann-Happle syndrome due to a nonsense mutation of c.245G>A (p.W82*)
2019
Mao Satake
Kyoko Kudo
Takashi Sasaki
Masutaka Furue
Akiharu Kubo
Keywords:
Dermatology
Pathology
Nonsense mutation
Medicine
Happle Syndrome
Correction
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