title: A novel X-linked phenotype caused by hypomorphic EBP mutations.
authors.forename: Rudolf
authors.initials: R
authors.lastname: Happle
mesh_terms: D000015:Abnormalities, Multiple / Q000201:enzymology* / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D011247:Pregnancy; D013251:Steroid Isomerases / Q000235:genetics*
chemical_list: D013251:Steroid Isomerases