Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects).

@article{Arnold2012ConradiHnermannHappleSI,
  title={Conradi-H{\"u}nermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects).},
  author={Andreas W Arnold and Leena Bruckner-Tuderman and Cristina Has and Rudolf Happle},
  journal={The British journal of dermatology},
  year={2012},
  volume={166 6},
  pages={1309-13}
}
BACKGROUND There is confusion in the literature concerning disorders caused by EBP (emopamil-binding protein) mutations in males. OBJECTIVES To study the clinical and genetic differences in males affected either with Conradi-Hünermann-Happle (CHH) syndrome (X-linked dominant chondrodysplasia punctata, CDPX2) or with a nonmosaic, X-linked recessive disorder for which we propose the acronymic term MEND syndrome (male EBP disorder with neurological defects). METHODS We report a 7-year-old boy… CONTINUE READING
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