Associated Papers
Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.
Posey JE et al.
American Journal of Medical Genetics. Part A, 2015
TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic disease.
Sanchez-Pulido L et al.
Frontiers in Genetics, 2014
Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata.
Tysoe C et al.
Prenatal Diagnosis, 2008
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