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Holocarboxylase synthetase deficiency: novel clinical and molecular findings.
Clin Genet. 2010 Jul;78(1):88-93. doi: 10.1111/j.1399-0004.2009.01357.x. Epub 2009 Dec 2.
Clin Genet. 2010.
PMID: 20095979
De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome.
Shotelersuk V, Janklat S, Siriwan P, Tongkobpetch S.
Shotelersuk V, et al. Among authors: janklat s.
Clin Exp Dermatol. 2005 May;30(3):282-5. doi: 10.1111/j.1365-2230.2005.01722.x.
Clin Exp Dermatol. 2005.
PMID: 15807690
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