title: Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations.
authors.forename: Ana Belinda
authors.initials: AB
authors.lastname: Campos-Xavier
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Yves
authors.initials: Y
authors.lastname: Doumaz
authors.forename: Josué
authors.initials: J
authors.lastname: Feingold
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Valérie
authors.initials: V
authors.lastname: Cormier-Daire
mesh_terms: D018118:Chloride Channels / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D020125:Mutation, Missense; D010022:Osteopetrosis / Q000235:genetics* / Q000473:pathology; D010375:Pedigree
chemical_list: C097540:CLCN7 protein, human; D018118:Chloride Channels; D004247:DNA