Haghighi, A and Scott, CA and Poon, DS and Yaghoobi, R and Saleh-Gohari, N and Plagnol, V and Kelsell, DP (2013) A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. J Invest Dermatol , 133 (2) 571 - 573. 10.1038/jid.2012.289.
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|Title:||A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.|
|Keywords:||Chromosomes, Human, X, Family Health, Female, Humans, Keratoderma, Palmoplantar, Male, Metalloendopeptidases, Mutation, Missense, Pedigree, Syndrome|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of) > Genetics, Evolution and Environment > UCL Genetics Institute|
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