Identification of 14 novel mutations in
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M. Witsch-Baumgartner; P. Clayton; N. Clusellas; D. Haas; R.I. Kelley; M. Krajew
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Article
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2005
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John Wiley and Sons
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English
⚖ 70 KB
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The Smith-Lemli-Opitz syndrome (SLOS) is a phenotypically variable metabolic malformation and mental retardation syndrome for which more than 80 mutations in the DHCR7 disease-causing gene have been described. The DHCR7 mutational spectra differ significantly in different areas of Europe, and severa