A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene

T. Yanagishita, Kazumitsu Sugiura, Y. Kawamoto, K. Ito, Y. Marubashi, N. Taguchi, M. Akiyama, D. Watanabe

Research output: Contribution to journalLetter

4 Citations (Scopus)
Original languageEnglish
Pages (from-to)970-973
Number of pages4
JournalBritish Journal of Dermatology
Volume170
Issue number4
DOIs
Publication statusPublished - 01-01-2014
Externally publishedYes

Fingerprint

Hair Diseases
Mitochondrial Diseases
Frameshift Mutation
Sensorineural Hearing Loss
Electron Transport Complex III
Preschool Children
Missense Mutation
Heterozygote
Mutation
Genes

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

Yanagishita, T., Sugiura, K., Kawamoto, Y., Ito, K., Marubashi, Y., Taguchi, N., ... Watanabe, D. (2014). A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene. British Journal of Dermatology, 170(4), 970-973. https://doi.org/10.1111/bjd.12736
Yanagishita, T. ; Sugiura, Kazumitsu ; Kawamoto, Y. ; Ito, K. ; Marubashi, Y. ; Taguchi, N. ; Akiyama, M. ; Watanabe, D. / A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene. In: British Journal of Dermatology. 2014 ; Vol. 170, No. 4. pp. 970-973.
@article{78e44c8fbbe4449e9b1f79de0dc24dff,
title = "A case of Bj{\"o}rnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene",
author = "T. Yanagishita and Kazumitsu Sugiura and Y. Kawamoto and K. Ito and Y. Marubashi and N. Taguchi and M. Akiyama and D. Watanabe",
year = "2014",
month = "1",
day = "1",
doi = "10.1111/bjd.12736",
language = "English",
volume = "170",
pages = "970--973",
journal = "British Journal of Dermatology",
issn = "0007-0963",
publisher = "Wiley-Blackwell",
number = "4",

}

Yanagishita, T, Sugiura, K, Kawamoto, Y, Ito, K, Marubashi, Y, Taguchi, N, Akiyama, M & Watanabe, D 2014, 'A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene', British Journal of Dermatology, vol. 170, no. 4, pp. 970-973. https://doi.org/10.1111/bjd.12736

A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene. / Yanagishita, T.; Sugiura, Kazumitsu; Kawamoto, Y.; Ito, K.; Marubashi, Y.; Taguchi, N.; Akiyama, M.; Watanabe, D.

In: British Journal of Dermatology, Vol. 170, No. 4, 01.01.2014, p. 970-973.

Research output: Contribution to journalLetter

TY - JOUR

T1 - A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene

AU - Yanagishita, T.

AU - Sugiura, Kazumitsu

AU - Kawamoto, Y.

AU - Ito, K.

AU - Marubashi, Y.

AU - Taguchi, N.

AU - Akiyama, M.

AU - Watanabe, D.

PY - 2014/1/1

Y1 - 2014/1/1

UR - http://www.scopus.com/inward/record.url?scp=84929940994&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84929940994&partnerID=8YFLogxK

U2 - 10.1111/bjd.12736

DO - 10.1111/bjd.12736

M3 - Letter

C2 - 24236502

AN - SCOPUS:84929940994

VL - 170

SP - 970

EP - 973

JO - British Journal of Dermatology

JF - British Journal of Dermatology

SN - 0007-0963

IS - 4

ER -