Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.

M. Witsch-Baumgartner, P. Clayton, N. Clusellas, D. Haas, R. I. Kelley, M. Krajewska-Walasek, S. Lechner, M. Rossi, J. Zschocke, G. Utermann

Research output: Contribution to journal › Article › peer-review

23 Scopus citations

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Medicine & Life Sciences