Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma-Reference-Cited by-同舟云学术

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

Published:2012-10-14 Issue:11 Volume:44 Page:1272-1276
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Pohler Elizabeth,Mamai Ons,Hirst Jennifer,Zamiri Mozheh,Horn Helen,Nomura Toshifumi,Irvine Alan D,Moran Benvon,Wilson Neil J,Smith Frances J D,Goh Christabelle S M,Sandilands Aileen,Cole Christian,Barton Geoffrey J,Evans Alan T,Shimizu Hiroshi,Akiyama Masashi,Suehiro Mitsuhiro,Konohana Izumi,Shboul Mohammad,Teissier Sebastien,Boussofara Lobna,Denguezli Mohamed,Saad Ali,Gribaa Moez,Dopping-Hepenstal Patricia J,McGrath John A,Brown Sara J,Goudie David R,Reversade Bruno,Munro Colin S,McLean W H Irwin

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2444.pdf

Reference31 articles.

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2. Stevens, H.P. et al. Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas. Arch. Dermatol. 132, 640–651 (1996).

3. Kelsell, D.P. & Stevens, H.P. The palmoplantar keratodermas: much more than palms and soles. Mol. Med. Today 5, 107–113 (1999).

4. Emmert, S. et al. 47 patients in 14 families with the rare genodermatosis keratosis punctata palmoplantaris Buschke-Fischer-Brauer. Eur. J. Dermatol. 13, 16–20 (2003).

5. Martinez-Mir, A. et al. Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24. J. Med. Genet. 40, 872–878 (2003).

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