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

研究成果: ジャーナルへの寄稿 › レター › 査読

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@article{65ab2a0d24cb4216be2a4b12a09ac585,

title = "Case of Conradi–H{\"u}nermann–Happle syndrome due to a nonsense mutation of c.245G>A (p.W82*)",

author = "Mao Satake and Kyoko Kudo and Takashi Sasaki and Masutaka Furue and Akiharu Kubo",

year = "2019",

doi = "10.1111/1346-8138.14836",

language = "English",

volume = "46",

pages = "e296--e298",

journal = "Journal of Dermatology",

issn = "0385-2407",

publisher = "Wiley-Blackwell",

number = "8",

}

TY - JOUR

T1 - Case of Conradi–Hünermann–Happle syndrome due to a nonsense mutation of c.245G>A (p.W82*)

AU - Satake, Mao

AU - Kudo, Kyoko

AU - Sasaki, Takashi

AU - Furue, Masutaka

AU - Kubo, Akiharu

PY - 2019

Y1 - 2019

UR - http://www.scopus.com/inward/record.url?scp=85062369551&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85062369551&partnerID=8YFLogxK

U2 - 10.1111/1346-8138.14836

DO - 10.1111/1346-8138.14836

M3 - Letter

C2 - 30809841

AN - SCOPUS:85062369551

SN - 0385-2407

VL - 46

SP - e296-e298

JO - Journal of Dermatology

JF - Journal of Dermatology

IS - 8

ER -