Abstract
Punctate palmoplantar keratoderma type I (PPPK1; also known as Buschke-Fischer-Brauer type; OMIM 148600) is an autosomal dominant disorder of keratinization, characterised by multiple hyperkeratotic lesions on palms and soles that usually start in early adolescence but may also start later in life (1). Lesions increase in size and number with advancing age and may coalesce over pressure points to form larger plaques. Recently, two consecutive studies identified the causative gene for PPPK1 as AAGAB (2, 3), located on chromosome 15q23, a locus to which the causal gene for PPPK1 was previously mapped (4). This article is protected by copyright. All rights reserved.
| Original language | English |
|---|---|
| Pages (from-to) | 433-436 |
| Number of pages | 4 |
| Journal | British Journal of Dermatology |
| Volume | 171 |
| Issue number | 2 |
| Early online date | 7 Aug 2014 |
| DOIs | |
| Publication status | Published - 18 Aug 2014 |
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New and recurrent AAGAB mutations in punctate palmoplantar keratoderma. / Pohler, Elizabeth; Huber, M.; Boonen, S. E.; Zamiri, M.; Gregersen, P. A.; Sommerlund, M.; Ramsing, M.; Hohl, D.; McLean, W. H. I.; Smith, F. J. (Lead / Corresponding author).
In: British Journal of Dermatology, Vol. 171, No. 2, 18.08.2014, p. 433-436.Research output: Contribution to journal › Letter
TY - JOUR
T1 - New and recurrent AAGAB mutations in punctate palmoplantar keratoderma
AU - Pohler, Elizabeth
AU - Huber, M.
AU - Boonen, S. E.
AU - Zamiri, M.
AU - Gregersen, P. A.
AU - Sommerlund, M.
AU - Ramsing, M.
AU - Hohl, D.
AU - McLean, W. H. I.
AU - Smith, F. J.
N1 - This article is protected by copyright. All rights reserved. Wellcome Trust Strategic Award. Grant Number: 098439/Z/12/Z Wellcome Trust Programme. Grant Number: 092530/Z/10/Z
PY - 2014/8/18
Y1 - 2014/8/18
N2 - Punctate palmoplantar keratoderma type I (PPPK1; also known as Buschke-Fischer-Brauer type; OMIM 148600) is an autosomal dominant disorder of keratinization, characterised by multiple hyperkeratotic lesions on palms and soles that usually start in early adolescence but may also start later in life (1). Lesions increase in size and number with advancing age and may coalesce over pressure points to form larger plaques. Recently, two consecutive studies identified the causative gene for PPPK1 as AAGAB (2, 3), located on chromosome 15q23, a locus to which the causal gene for PPPK1 was previously mapped (4). This article is protected by copyright. All rights reserved.
AB - Punctate palmoplantar keratoderma type I (PPPK1; also known as Buschke-Fischer-Brauer type; OMIM 148600) is an autosomal dominant disorder of keratinization, characterised by multiple hyperkeratotic lesions on palms and soles that usually start in early adolescence but may also start later in life (1). Lesions increase in size and number with advancing age and may coalesce over pressure points to form larger plaques. Recently, two consecutive studies identified the causative gene for PPPK1 as AAGAB (2, 3), located on chromosome 15q23, a locus to which the causal gene for PPPK1 was previously mapped (4). This article is protected by copyright. All rights reserved.
U2 - 10.1111/bjd.12927
DO - 10.1111/bjd.12927
M3 - Letter
VL - 171
SP - 433
EP - 436
JO - British Journal of Dermatology
JF - British Journal of Dermatology
SN - 0007-0963
IS - 2
ER -