000 | 01729na a2200241 4500 | ||
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003 | H12O | ||
005 | 20180417112631.0 | ||
008 | 130622s2012 xxx||||| |||| 00| 0 eng d | ||
040 | _cH12O | ||
041 | _aeng | ||
100 |
_9657 _aGarcía Silva, María Teresa _eUnidad de Enfermedades Metabólicas y Mitocondriales |
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100 |
_91158 _aMartín Hernández, Elena _eUnidad de Enfermedades Metabólicas y Mitocondriales |
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245 | 0 | 0 |
_aClinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hunermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature. _h[artículo] |
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_bBritish Journal of Dermatology, _c2012 |
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300 | _a166(4):830-8. | ||
500 | _aFormato Vancouver: Cañueto J, Girós M, Ciria S, Pi-Castán G, Artigas M, García-Dorado J, et al. Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature. Br J Dermatol. 2012 Apr;166(4):830-8. | ||
501 | _aPMID: 22121851 | ||
504 | _aContiene 22 referencias | ||
520 | _aConradi-Hunermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited X linked dominant variant of chondrodysplasia puttctata which primarily affects the skin, bones and eyes. CDPX2 results from mutations in EBP (emopamil binding protein), and presents with increased levels of sterol precursors 8(9) cholestenol and 8 dehydsocholesterol. | ||
710 |
_9446 _aServicio de Pediatría-Neonatología |
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856 |
_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/7/pc7889.pdf _ySolicitar documento |
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_n0 _2ddc _cART |
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_c7889 _d7889 |