Haploinsufficiency for alpha- and gamma-adaptin binding protein (AAGAB) p34 causes clinically heterogeneous forms of punctate palmoplantar keratoderma

E. Pohler; O. Mamai; J. Hirst; M. Zamiri; H. Horn; A. D. Irvine; T. Nomura; J. A. McGrath; C. S. Munro; W. McLean

Haploinsufficiency for alpha- and gamma-adaptin binding protein (AAGAB) p34 causes clinically heterogeneous forms of punctate palmoplantar keratoderma

E. Pohler, O. Mamai, J. Hirst, M. Zamiri, H. Horn, A. D. Irvine, T. Nomura, J. A. McGrath, C. S. Munro, W. McLean

Research output: Contribution to journal › Meeting abstract › peer-review

Original language	English
Pages (from-to)	S89-S89
Number of pages	1
Journal	Journal of Investigative Dermatology
Volume	132
Publication status	Published - Sep 2012

1 Article

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma
Pohler, E., Mamai, O., Hirst, J., Zamiri, M., Horn, H., Nomura, T., Irvine, A. D., Moran, B., Wilson, N. J., Smith, F. J. D., Goh, C. S. M., Sandilands, A., Cole, C., Barton, G. J., Evans, A. T., Shimizu, H., Akiyama, M., Suehiro, M., Konohana, I., Shboul, M. & 12 others, Teissier, S., Boussofara, L., Denguezli, M., Saad, A., Gribaa, M., Dopping-Hepenstal, P. J., McGrath, J. A., Brown, S. J., Goudie, D. R., Reversade, B., Munro, C. S. & McLean, W. H. I., Nov 2012, In: Nature Genetics. 44, 11, p. 1272-1276 5 p.
Research output: Contribution to journal › Article › peer-review
47 Citations (Scopus)

Rare skin disease gene discovered
Elizabeth Pohler, Alan Irvine, Toshifumi Nomura, John A. McGrath, W. H. Irwin McLean, Neil Wilson, Frances J. D. Smith, Aileen Sandilands, Christian Cole, Alan Evans, Sara J. Brown & David R. Goudie
15/10/12
1 item of Media coverage
Press/Media: Research

Cite this

@article{5130f44df3214f53954c58a2510f7f7f,

title = "Haploinsufficiency for alpha- and gamma-adaptin binding protein (AAGAB) p34 causes clinically heterogeneous forms of punctate palmoplantar keratoderma",

author = "E. Pohler and O. Mamai and J. Hirst and M. Zamiri and H. Horn and Irvine, {A. D.} and T. Nomura and McGrath, {J. A.} and Munro, {C. S.} and W. McLean",

year = "2012",

month = sep,

language = "English",

volume = "132",

pages = "S89--S89",

journal = "Journal of Investigative Dermatology",

issn = "0022-202X",

publisher = "Nature Publishing Group",

}

Haploinsufficiency for alpha- and gamma-adaptin binding protein (AAGAB) p34 causes clinically heterogeneous forms of punctate palmoplantar keratoderma. / Pohler, E.; Mamai, O.; Hirst, J.; Zamiri, M.; Horn, H.; Irvine, A. D.; Nomura, T.; McGrath, J. A.; Munro, C. S.; McLean, W.

In: Journal of Investigative Dermatology, Vol. 132, 09.2012, p. S89-S89.

Research output: Contribution to journal › Meeting abstract › peer-review

TY - JOUR

T1 - Haploinsufficiency for alpha- and gamma-adaptin binding protein (AAGAB) p34 causes clinically heterogeneous forms of punctate palmoplantar keratoderma

AU - Pohler, E.

AU - Mamai, O.

AU - Hirst, J.

AU - Zamiri, M.

AU - Horn, H.

AU - Irvine, A. D.

AU - Nomura, T.

AU - McGrath, J. A.

AU - Munro, C. S.

AU - McLean, W.

PY - 2012/9

Y1 - 2012/9

M3 - Meeting abstract

VL - 132

SP - S89-S89

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

SN - 0022-202X

ER -

Haploinsufficiency for alpha- and gamma-adaptin binding protein (AAGAB) p34 causes clinically heterogeneous forms of punctate palmoplantar keratoderma

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

Rare skin disease gene discovered

Cite this