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 - Sept 2012

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. (Lead / Corresponding author), Nov 2012, In: Nature Genetics. 44, 11, p. 1272-1276 5 p.
Research output: Contribution to journal › Article › peer-review
77 Link opens in a new tab Citations (Scopus)

Rare skin disease gene discovered
Pohler, E., Irvine, A., Nomura, T., McGrath, J. A., McLean, W. H. I., Wilson, N., Smith, F. J. D., Sandilands, A., Cole, C., Evans, A., Brown, S. J. & Goudie, D. R.
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 = "Elsevier",

}

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

SN - 0022-202X

VL - 132

SP - S89-S89

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

ER -

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

Research output

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

Press/Media

Rare skin disease gene discovered

Cite this