Case of Conradi–Hünermann–Happle syndrome due to a nonsense mutation of c.245G>A (p.W82*)
Journal article published in 2019 by
Mao Satake 
,
Kyoko Kudo ,
Takashi Sasaki ,
Masutaka Furue ,
Akiharu Kubo
,
Kyoko Kudo ,
Takashi Sasaki ,
Masutaka Furue ,
Akiharu Kubo
This paper is made freely available by the publisher.
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