Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling

Elizabeth Pohler; Mozheh Zamiri; Catriona Harkins; Julio C Salas-Alanis; William Perkins; Frances J. D. Smith; W. H. Irwin McLean; Sara J. Brown

doi:10.1038/jid.2013.243

Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling

Elizabeth Pohler, Mozheh Zamiri, Catriona Harkins, Julio C Salas-Alanis, William Perkins, Frances J. D. Smith, W. H. Irwin McLean, Sara J. Brown (Lead / Corresponding author)

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

17 Citations (Scopus)

Original language	English
Pages (from-to)	2805-2808
Number of pages	4
Journal	Journal of Investigative Dermatology
Volume	133
Issue number	12
Early online date	6 Jun 2013
DOIs	https://doi.org/10.1038/jid.2013.243
Publication status	Published - Dec 2013

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10.1038/jid.2013.243

Dermatology and Genetic Medicine (Strategic Grant) (Joint with Kings College London)
Barton, G. (Investigator), Campbell, P. (Investigator), Hickerson, R. (Investigator), Leigh, I. (Investigator), McLean, I. (Investigator) & Wyatt, P. (Investigator)
1/08/12 → 30/04/19
Project: Research
Human and Mouse Genetics Studies of Filaggrin-Related Proteins in Eczema and Allergy (Joint with Trinity College Dublin)
Barton, G. (Investigator) & McLean, I. (Investigator)
1/10/10 → 28/02/14
Project: Research
Aref#d: 20997. Factors Modulating the Effects of Filaggrin Haploinsufficiency in Ichthyosis Vulgaris and Atopic Eczema (Intermediate Research Fellowship - Dr Sara Brown)
Brown, S. (Investigator), Brown, S. (Investigator), Leigh, I. (Investigator) & McLean, I. (Investigator)
1/07/09 → 30/06/15
Project: Research

Cite this

@article{6b75e81912e1482b91c0ffb115bfd346,

title = "Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling",

author = "Elizabeth Pohler and Mozheh Zamiri and Catriona Harkins and Salas-Alanis, {Julio C} and William Perkins and Smith, {Frances J. D.} and McLean, {W. H. Irwin} and Brown, {Sara J.}",

year = "2013",

month = dec,

doi = "10.1038/jid.2013.243",

language = "English",

volume = "133",

pages = "2805--2808",

journal = "Journal of Investigative Dermatology",

issn = "0022-202X",

publisher = "Nature Publishing Group",

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}

TY - JOUR

T1 - Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling

AU - Pohler, Elizabeth

AU - Zamiri, Mozheh

AU - Harkins, Catriona

AU - Salas-Alanis, Julio C

AU - Perkins, William

AU - Smith, Frances J. D.

AU - McLean, W. H. Irwin

AU - Brown, Sara J.

PY - 2013/12

Y1 - 2013/12

U2 - 10.1038/jid.2013.243

DO - 10.1038/jid.2013.243

M3 - Letter

C2 - 23743648

SN - 0022-202X

VL - 133

SP - 2805

EP - 2808

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

IS - 12

ER -

Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling

Access to Document

Projects

Dermatology and Genetic Medicine (Strategic Grant) (Joint with Kings College London)

Human and Mouse Genetics Studies of Filaggrin-Related Proteins in Eczema and Allergy (Joint with Trinity College Dublin)

Aref#d: 20997. Factors Modulating the Effects of Filaggrin Haploinsufficiency in Ichthyosis Vulgaris and Atopic Eczema (Intermediate Research Fellowship - Dr Sara Brown)

Cite this