000			01729na a2200241 4500
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
100			_91158 _aMartín Hernández, Elena _eUnidad de Enfermedades Metabólicas y Mitocondriales
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]
260			_bBritish Journal of Dermatology, _c2012
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
856			_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/7/pc7889.pdf _ySolicitar documento
942			_n0 _2ddc _cART
999			_c7889 _d7889