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A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene.
Br J Dermatol. 2014 Apr; 170(4):970-3.BJ

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Publisher Full Text (DOI)

Authors+Show Affiliations

Yanagishita T
Department of Dermatology, Aichi Medical University School of Medicine, Nagakute, Aichi, 480-1195, Japan.
Sugiura K
No affiliation info available
Kawamoto Y
No affiliation info available
Ito K
No affiliation info available
Marubashi Y
No affiliation info available
Taguchi N
No affiliation info available
Akiyama M
No affiliation info available
Watanabe D
No affiliation info available

MeSH

ATPases Associated with Diverse Cellular ActivitiesChild, PreschoolElectron Transport Complex IIIFemaleFrameshift MutationHair DiseasesHearing Loss, SensorineuralHeterozygoteHumansMitochondrial DiseasesMutation, Missense

Pub Type(s)

Case Reports
Letter

Language

eng

PubMed ID

24236502

Citation

Yanagishita, T, et al. "A Case of Björnstad Syndrome Caused By Novel Compound Heterozygous Mutations in the BCS1L Gene." The British Journal of Dermatology, vol. 170, no. 4, 2014, pp. 970-3.
Yanagishita T, Sugiura K, Kawamoto Y, et al. A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene. Br J Dermatol. 2014;170(4):970-3.
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. The British Journal of Dermatology, 170(4), 970-3. https://doi.org/10.1111/bjd.12736
Yanagishita T, et al. A Case of Björnstad Syndrome Caused By Novel Compound Heterozygous Mutations in the BCS1L Gene. Br J Dermatol. 2014;170(4):970-3. PubMed PMID: 24236502.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene. AU - Yanagishita,T, AU - Sugiura,K, AU - Kawamoto,Y, AU - Ito,K, AU - Marubashi,Y, AU - Taguchi,N, AU - Akiyama,M, AU - Watanabe,D, PY - 2013/11/19/entrez PY - 2013/11/19/pubmed PY - 2015/5/29/medline SP - 970 EP - 3 JF - The British journal of dermatology JO - Br J Dermatol VL - 170 IS - 4 SN - 1365-2133 UR - https://wwww.unboundmedicine.com/medline/citation/24236502/A_case_of_Björnstad_syndrome_caused_by_novel_compound_heterozygous_mutations_in_the_BCS1L_gene_ DB - PRIME DP - Unbound Medicine ER -