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

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-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). 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

Y1 - 2018/2

UR - http://www.scopus.com/inward/record.url?scp=85038868472&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85038868472&partnerID=8YFLogxK

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 -