Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn

Rebecca Higgins; Annika N. Jensen; Julian Wachstein; Leena Bruckner-Tuderman; Roland Spiegel; Hubert Traber; Josef Achermann; Martin Schaller; Birgit Fehrenbacher; Martin Röcken; Desislava Ignatova; Yun-Tsan Chang; Tobias Fischer; Agnes E. Schwieger-Briel; Lars E. French; Wolfram Hötzenecker; Rene Hornung; Andreas Malzacher; Antonio Cozzio; Alexander A. Navarini; Christina Has; Emmanuella Guenova

doi:10.2340/00015555-3313

Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn

Rebecca Higgins
, Annika N. Jensen
, Julian Wachstein
, Leena Bruckner-Tuderman
, Roland Spiegel
, Hubert Traber
, Josef Achermann
, Martin Schaller
, Birgit Fehrenbacher
, Martin Röcken
, Desislava Ignatova
, Yun-Tsan Chang
, Tobias Fischer
, Agnes E. Schwieger-Briel
, Lars E. French
, Wolfram Hötzenecker
, Rene Hornung
, Andreas Malzacher
, Antonio Cozzio
, Alexander A. Navarini

Christina Has, Emmanuella Guenova

Department of Dermatology and Venereology

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

Original language	English
Article number	adv00041
Pages (from-to)	1-3
Number of pages	3
Journal	Acta Dermato-Venereologica
Volume	100
Issue number	1
DOIs	https://doi.org/10.2340/00015555-3313
Publication status	Published - 30 Jan 2020

Fields of science

302087 Venereology
302011 Dermatology

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10.2340/00015555-3313

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Higgins, R., Jensen, A. N., Wachstein, J., Bruckner-Tuderman, L., Spiegel, R., Traber, H., Achermann, J., Schaller, M., Fehrenbacher, B., Röcken, M., Ignatova, D., Chang, Y.-T., Fischer, T., Schwieger-Briel, A. E., French, L. E., Hötzenecker, W., Hornung, R., Malzacher, A., Cozzio, A., ... Guenova, E. (2020). Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn. Acta Dermato-Venereologica, 100(1), 1-3. Article adv00041. https://doi.org/10.2340/00015555-3313

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title = "Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn",

author = "Rebecca Higgins and Jensen, \{Annika N.\} and Julian Wachstein and Leena Bruckner-Tuderman and Roland Spiegel and Hubert Traber and Josef Achermann and Martin Schaller and Birgit Fehrenbacher and Martin R{\"o}cken and Desislava Ignatova and Yun-Tsan Chang and Tobias Fischer and Schwieger-Briel, \{Agnes E.\} and French, \{Lars E.\} and Wolfram H{\"o}tzenecker and Rene Hornung and Andreas Malzacher and Antonio Cozzio and Navarini, \{Alexander A.\} and Christina Has and Emmanuella Guenova",

year = "2020",

month = jan,

day = "30",

doi = "10.2340/00015555-3313",

language = "English",

volume = "100",

pages = "1--3",

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Higgins, R, Jensen, AN, Wachstein, J, Bruckner-Tuderman, L, Spiegel, R, Traber, H, Achermann, J, Schaller, M, Fehrenbacher, B, Röcken, M, Ignatova, D, Chang, Y-T , Fischer, T, Schwieger-Briel, AE, French, LE, Hötzenecker, W, Hornung, R, Malzacher, A, Cozzio, A, Navarini, AA, Has, C & Guenova, E 2020, 'Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn', Acta Dermato-Venereologica, vol. 100, no. 1, adv00041, pp. 1-3. https://doi.org/10.2340/00015555-3313

TY - JOUR

T1 - Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn

AU - Higgins, Rebecca

AU - Jensen, Annika N.

AU - Wachstein, Julian

AU - Bruckner-Tuderman, Leena

AU - Spiegel, Roland

AU - Traber, Hubert

AU - Achermann, Josef

AU - Schaller, Martin

AU - Fehrenbacher, Birgit

AU - Röcken, Martin

AU - Ignatova, Desislava

AU - Chang, Yun-Tsan

AU - Fischer, Tobias

AU - Schwieger-Briel, Agnes E.

AU - French, Lars E.

AU - Hötzenecker, Wolfram

AU - Hornung, Rene

AU - Malzacher, Andreas

AU - Cozzio, Antonio

AU - Navarini, Alexander A.

AU - Has, Christina

AU - Guenova, Emmanuella

PY - 2020/1/30

Y1 - 2020/1/30

UR - https://www.ncbi.nlm.nih.gov/pubmed/31502654

UR - https://www.scopus.com/pages/publications/85079020084

U2 - 10.2340/00015555-3313

DO - 10.2340/00015555-3313

M3 - Article

C2 - 31502654

SN - 1651-2057

VL - 100

SP - 1

EP - 3

JO - Acta Dermato-Venereologica

JF - Acta Dermato-Venereologica

IS - 1

M1 - adv00041

ER -

Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn

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