Bathing suit ichthyosis: A temperature sensitive phenotype

Vinzenz Oji; B. Ahvazi; I. Hausser; H. C. Hennies; W. K. Jacyk; K. Aufenvenne; H. Traupe

Bathing suit ichthyosis: A temperature sensitive phenotype

Vinzenz Oji, B. Ahvazi, I. Hausser, H. C. Hennies, W. K. Jacyk, K. Aufenvenne, H. Traupe

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

Abstract

Bathing suit ichthyosis is a particular phenotype of congenital non bullous ichthyosis due to mutations in transglutaminase-1 gene and clinically characterized by lach of limb involvement. This peculiar phenotype is due to the activity of its causing mutations that directly or indirectly can make the transglutaminase-1 enzyme sensitive to the changes of the skin temperature.

Original language	English
Pages (from-to)	75-77
Number of pages	3
Journal	European Journal of Pediatric Dermatology
Volume	18
Issue number	2
Publication status	Published - 1 Jan 2008
Externally published	Yes

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title = "Bathing suit ichthyosis: A temperature sensitive phenotype",

abstract = "Bathing suit ichthyosis is a particular phenotype of congenital non bullous ichthyosis due to mutations in transglutaminase-1 gene and clinically characterized by lach of limb involvement. This peculiar phenotype is due to the activity of its causing mutations that directly or indirectly can make the transglutaminase-1 enzyme sensitive to the changes of the skin temperature.",

keywords = "Bathing suit ichthyosis, Thermosensitivity, Transglutaminase-1",

author = "Vinzenz Oji and B. Ahvazi and I. Hausser and Hennies, {H. C.} and Jacyk, {W. K.} and K. Aufenvenne and H. Traupe",

year = "2008",

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T2 - A temperature sensitive phenotype

AU - Oji, Vinzenz

AU - Ahvazi, B.

AU - Hausser, I.

AU - Hennies, H. C.

AU - Jacyk, W. K.

AU - Aufenvenne, K.

AU - Traupe, H.

PY - 2008/1/1

Y1 - 2008/1/1

N2 - Bathing suit ichthyosis is a particular phenotype of congenital non bullous ichthyosis due to mutations in transglutaminase-1 gene and clinically characterized by lach of limb involvement. This peculiar phenotype is due to the activity of its causing mutations that directly or indirectly can make the transglutaminase-1 enzyme sensitive to the changes of the skin temperature.

AB - Bathing suit ichthyosis is a particular phenotype of congenital non bullous ichthyosis due to mutations in transglutaminase-1 gene and clinically characterized by lach of limb involvement. This peculiar phenotype is due to the activity of its causing mutations that directly or indirectly can make the transglutaminase-1 enzyme sensitive to the changes of the skin temperature.

KW - Bathing suit ichthyosis

KW - Thermosensitivity

KW - Transglutaminase-1

UR - http://www.scopus.com/inward/record.url?scp=51749088988&partnerID=8YFLogxK

UR - https://www.ejpd.com/index.php/journal/issue/view/47

M3 - Article

AN - SCOPUS:51749088988

VL - 18

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EP - 77

JO - European Journal of Pediatric Dermatology

JF - European Journal of Pediatric Dermatology

SN - 1122-7672

IS - 2

ER -

Bathing suit ichthyosis: A temperature sensitive phenotype

Abstract

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