The complete type of pachydermoperiostosis: A novel nonsense mutation p.E141* of the SLC02A1 gene

被引：23

作者：

Niizeki, H. ^{[1
]}

Shiohama, A. ^{[2
,3
]}

Sasaki, T. ^{[4
]}

Seki, A. ^{[5
]}

Kabashima, K. ^{[6
]}

Otsuka, A. ^{[6
]}

Kosaki, K. ^{[7
]}

Ogo, A. ^{[8
]}

Yamada, T. ^{[9
]}

Miyasaka, M. ^{[10
]}

Matsuoka, K. ^{[11
]}

Hirakiyama, A. ^{[12
]}

Okuyama, T. ^{[12
]}

Matsuda, M. ^{[13
]}

Nakabayashi, K. ^{[14
]}

Tanese, K. ^{[2
]}

Ishiko, A. ^{[15
]}

Amagai, M. ^{[2
]}

Kudoh, J. ^{[3
]}

机构：

[1] Natl Ctr Child Hlth & Dev, Dept Dermatol, Setagaya Ku, Tokyo 1578535, Japan

[2] Keio Univ, Sch Med, Dept Dermatol, Tokyo, Japan

[3] Keio Univ, Sch Med, Lab Gene Med, Tokyo, Japan

[4] Keio Univ, Sch Med, Ctr Integrated Med Res, Tokyo, Japan

[5] Natl Ctr Child Hlth & Dev, Dept Orthoped, Tokyo 1578535, Japan

[6] Kyoto Univ, Grad Sch Med, Dept Dermatol, Kyoto, Japan

[7] Univ Tokyo, Dept Orthoped Surg, Tokyo, Japan

[8] Kyushu Med Ctr, Natl Hosp Org, Clin Res Inst, Dept Endocrinol & Metab, Fukuoka, Japan

[9] Himeji Red Cross Hosp, Dept Dermatol, Himeji, Hyogo, Japan

[10] Natl Ctr Child Hlth & Dev, Dept Radiol, Tokyo 1578535, Japan

[11] Natl Ctr Child Hlth & Dev, Dept Pathol, Tokyo 1578535, Japan

[12] Natl Ctr Child Hlth & Dev, Dept Lab Med, Tokyo 1578535, Japan

[13] Natl Ctr Child Hlth & Dev, Dept Dermatol, Tokyo 1578535, Japan

[14] Natl Res Inst Child Hlth & Dev, Dept Reprod Biol, Tokyo, Japan

[15] Toho Univ, Sch Med, Dept Dermatol, Ota Ku, Tokyo, Japan

来源：

JOURNAL OF DERMATOLOGICAL SCIENCE | 2014年 / 75卷 / 03期

关键词：

PRIMARY HYPERTROPHIC OSTEOARTHROPATHY; SLCO2A1; PHENOTYPE;

D O I：

10.1016/j.jdermsci.2014.05.008

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：193 / 195

页数：3

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