Case of Conradi–Hünermann–Happle syndrome due to a nonsense mutation of c.245G>A (p.W82*)

Mao Satake, Kyoko Kudo, Takashi Sasaki, Masutaka Furue, Akiharu Kubo

Research output: Contribution to journalLetter

Original languageEnglish
Pages (from-to)e296-e298
JournalJournal of Dermatology
Volume46
Issue number8
DOIs
Publication statusPublished - Jan 1 2019

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Chondrodysplasia Punctata
Nonsense Codon

All Science Journal Classification (ASJC) codes

  • Dermatology

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Case of Conradi–Hünermann–Happle syndrome due to a nonsense mutation of c.245G>A (p.W82*). / Satake, Mao; Kudo, Kyoko; Sasaki, Takashi; Furue, Masutaka; Kubo, Akiharu.

In: Journal of Dermatology, Vol. 46, No. 8, 01.01.2019, p. e296-e298.

Research output: Contribution to journalLetter

Satake, Mao ; Kudo, Kyoko ; Sasaki, Takashi ; Furue, Masutaka ; Kubo, Akiharu. / Case of Conradi–Hünermann–Happle syndrome due to a nonsense mutation of c.245G>A (p.W82*). In: Journal of Dermatology. 2019 ; Vol. 46, No. 8. pp. e296-e298.
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