title: Non-lethal non-mosaic male with Conradi-Hunermann syndrome caused by a novel EBP c.356T>G mutation.
authors.affiliation: Division of Social Pediatrics and Child Neurology, University Childrens's Hospital, Frauensteige 10, D-89077 Ulm, Germany. harald.bode@uniklinik-ulm.de
authors.forename: Harald
authors.initials: H
authors.lastname: Bode
authors.forename: Christoph
authors.initials: C
authors.lastname: Galm
authors.forename: Helmut
authors.initials: H
authors.lastname: Hummler
authors.forename: Christopher
authors.initials: C
authors.lastname: Teller
authors.forename: Dorothea
authors.initials: D
authors.lastname: Haas
authors.forename: Martin
authors.initials: M
authors.lastname: Gencik
mesh_terms: D002806:Chondrodysplasia Punctata / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010641:Phenotype; D013251:Steroid Isomerases / Q000235:genetics*
chemical_list: D013251:Steroid Isomerases; C090445:EBP protein, human