A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi–Goutières and Singleton–Merten syndromes in a single patient

T. Takeichi; C. Katayama; T. Tanaka; Y. Okuno; N. Murakami; M. Kono; K. Sugiura; Y. Aoyama; M. Akiyama

doi:10.1111/bjd.15869

A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi–Goutières and Singleton–Merten syndromes in a single patient

T. Takeichi, C. Katayama, T. Tanaka, Y. Okuno, N. Murakami, M. Kono, K. Sugiura, Y. Aoyama, M. Akiyama

Dermatology

Research output: Contribution to journal › Letter › peer-review

4 Citations (Scopus)

Original language	English
Pages (from-to)	e111-e113
Journal	British Journal of Dermatology
Volume	178
Issue number	2
DOIs	https://doi.org/10.1111/bjd.15869
Publication status	Published - 01-02-2018

All Science Journal Classification (ASJC) codes

Dermatology

Access to Document

10.1111/bjd.15869

Cite this

@article{aa26235dd0d54efb9aeefeca847bbe46,

title = "A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi–Gouti{\`e}res and Singleton–Merten syndromes in a single patient",

author = "T. Takeichi and C. Katayama and T. Tanaka and Y. Okuno and N. Murakami and M. Kono and K. Sugiura and Y. Aoyama and M. Akiyama",

note = "Funding Information: This work was supported by funding from Advanced Research and Development Programs for Medical Innovation (AMED- Funding Information: CREST) to M.A. from Japan Agency for Medical Research and Development (AMED). This work was also supported by a Grant-in-Aid for Scientific Research (B) 15H04887 to M.A., and by a Grant-in-Aid for Young Scientists (B) 16K19717 to T.T. from the Japan Society for the Promotion of Science (JSPS).",

year = "2018",

month = feb,

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volume = "178",

pages = "e111--e113",

journal = "British Journal of Dermatology",

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A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi–Goutières and Singleton–Merten syndromes in a single patient. / Takeichi, T.; Katayama, C.; Tanaka, T.; Okuno, Y.; Murakami, N.; Kono, M.; Sugiura, K.; Aoyama, Y.; Akiyama, M.

In: British Journal of Dermatology, Vol. 178, No. 2, 01.02.2018, p. e111-e113.

Research output: Contribution to journal › Letter › peer-review

TY - JOUR

T1 - A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi–Goutières and Singleton–Merten syndromes in a single patient

AU - Takeichi, T.

AU - Katayama, C.

AU - Tanaka, T.

AU - Okuno, Y.

AU - Murakami, N.

AU - Kono, M.

AU - Sugiura, K.

AU - Aoyama, Y.

AU - Akiyama, M.

N1 - Funding Information: This work was supported by funding from Advanced Research and Development Programs for Medical Innovation (AMED- Funding Information: CREST) to M.A. from Japan Agency for Medical Research and Development (AMED). This work was also supported by a Grant-in-Aid for Scientific Research (B) 15H04887 to M.A., and by a Grant-in-Aid for Young Scientists (B) 16K19717 to T.T. from the Japan Society for the Promotion of Science (JSPS).

PY - 2018/2/1

Y1 - 2018/2/1

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U2 - 10.1111/bjd.15869

DO - 10.1111/bjd.15869

M3 - Letter

C2 - 29270977

AN - SCOPUS:85038868472

VL - 178

SP - e111-e113

JO - British Journal of Dermatology

JF - British Journal of Dermatology

SN - 0007-0963

IS - 2

ER -