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Mutations in EXPH5 (exophilin-5) underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex

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Mutations in EXPH5 (exophilin-5) underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex. / Rashidghamat, E; Ozoemena, L; Liu, L; McGrath, J A; Martinez, A E; Mellerio, J E.

In: British Journal of Dermatology, Vol. 174, No. 2, 02.2016, p. 452–453.

Research output: Contribution to journalArticle

Harvard

Rashidghamat, E, Ozoemena, L, Liu, L, McGrath, JA, Martinez, AE & Mellerio, JE 2016, 'Mutations in EXPH5 (exophilin-5) underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex', British Journal of Dermatology, vol. 174, no. 2, pp. 452–453. https://doi.org/10.1111/bjd.14047

APA

Rashidghamat, E., Ozoemena, L., Liu, L., McGrath, J. A., Martinez, A. E., & Mellerio, J. E. (2016). Mutations in EXPH5 (exophilin-5) underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex. British Journal of Dermatology, 174(2), 452–453. https://doi.org/10.1111/bjd.14047

Vancouver

Rashidghamat E, Ozoemena L, Liu L, McGrath JA, Martinez AE, Mellerio JE. Mutations in EXPH5 (exophilin-5) underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex. British Journal of Dermatology. 2016 Feb;174(2):452–453. https://doi.org/10.1111/bjd.14047

Author

Rashidghamat, E ; Ozoemena, L ; Liu, L ; McGrath, J A ; Martinez, A E ; Mellerio, J E. / Mutations in EXPH5 (exophilin-5) underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex. In: British Journal of Dermatology. 2016 ; Vol. 174, No. 2. pp. 452–453.

Bibtex Download

@article{7bdd9fae14f14df48ffded267069a02d,
title = "Mutations in EXPH5 (exophilin-5) underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex",
abstract = "Epidermolysis bullosa simplex (EBS) is a heterogeneous disorder with mutations in at least nine different genes underlying various autosomal dominant and recessive subtypes thereof.(1) Making an accurate clinical and laboratory diagnosis in some of the less common forms of EBS can be challenging. A 9-year-old boy with first-cousin Pakistani parents presented with skin fragility from birth. He had scattered vesicles and bullae up to 1-2 cm in size on the limbs and trunk (Figure 1a and b). Blistering was made worse by hot weather. Individual blisters healed within 1-2 weeks leaving post-inflammatory hypopigmentation. This article is protected by copyright. All rights reserved.",
author = "E Rashidghamat and L Ozoemena and L Liu and McGrath, {J A} and Martinez, {A E} and Mellerio, {J E}",
note = "This article is protected by copyright. All rights reserved.",
year = "2016",
month = feb,
doi = "10.1111/bjd.14047",
language = "English",
volume = "174",
pages = "452–453",
journal = "British Journal of Dermatology",
issn = "0007-0963",
publisher = "John Wiley & Sons, Ltd (10.1111)",
number = "2",

}

RIS (suitable for import to EndNote) Download

TY - JOUR

T1 - Mutations in EXPH5 (exophilin-5) underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex

AU - Rashidghamat, E

AU - Ozoemena, L

AU - Liu, L

AU - McGrath, J A

AU - Martinez, A E

AU - Mellerio, J E

N1 - This article is protected by copyright. All rights reserved.

PY - 2016/2

Y1 - 2016/2

N2 - Epidermolysis bullosa simplex (EBS) is a heterogeneous disorder with mutations in at least nine different genes underlying various autosomal dominant and recessive subtypes thereof.(1) Making an accurate clinical and laboratory diagnosis in some of the less common forms of EBS can be challenging. A 9-year-old boy with first-cousin Pakistani parents presented with skin fragility from birth. He had scattered vesicles and bullae up to 1-2 cm in size on the limbs and trunk (Figure 1a and b). Blistering was made worse by hot weather. Individual blisters healed within 1-2 weeks leaving post-inflammatory hypopigmentation. This article is protected by copyright. All rights reserved.

AB - Epidermolysis bullosa simplex (EBS) is a heterogeneous disorder with mutations in at least nine different genes underlying various autosomal dominant and recessive subtypes thereof.(1) Making an accurate clinical and laboratory diagnosis in some of the less common forms of EBS can be challenging. A 9-year-old boy with first-cousin Pakistani parents presented with skin fragility from birth. He had scattered vesicles and bullae up to 1-2 cm in size on the limbs and trunk (Figure 1a and b). Blistering was made worse by hot weather. Individual blisters healed within 1-2 weeks leaving post-inflammatory hypopigmentation. This article is protected by copyright. All rights reserved.

U2 - 10.1111/bjd.14047

DO - 10.1111/bjd.14047

M3 - Article

C2 - 26211931

VL - 174

SP - 452

EP - 453

JO - British Journal of Dermatology

JF - British Journal of Dermatology

SN - 0007-0963

IS - 2

ER -

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