Lindenthal, B <br/><br/>
Serum lipid analysis confirms the diagnosis of X-linked dominant chondrodysplasia punctata - Conradi-Hünermann-Happle syndrome.  [electronic resource] 

 -  Klinische Padiatrie   
 - 67-9 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>0300-8630 
<br/><br/><label>Standard No.: </label>10.1055/s-2004-44894  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cholestadienols--blood<br/>Cholestanol--blood<br/>Cholesterol--biosynthesis<br/>Chondrodysplasia Punctata--blood<br/>Chromosomes, Human, X<br/>Diagnosis, Differential<br/>Female<br/>Genes, Dominant--genetics<br/>Humans<br/>Infant<br/>Phenotype<br/>Reference Values<br/>Sex Chromosome Aberrations<br/>Sterols--blood