http://rdf.disgenet.org/nanopublications.trig#NP46751.RAmFREYhP9RmnHlTD0ydg93izL58HBVsF_-TCfFVfCdio130_head http://rdf.disgenet.org/nanopublications.trig#NP46751.RAmFREYhP9RmnHlTD0ydg93izL58HBVsF_-TCfFVfCdio http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP46751.RAmFREYhP9RmnHlTD0ydg93izL58HBVsF_-TCfFVfCdio130_assertion http://rdf.disgenet.org/nanopublications.trig#NP46751.RAmFREYhP9RmnHlTD0ydg93izL58HBVsF_-TCfFVfCdio http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP46751.RAmFREYhP9RmnHlTD0ydg93izL58HBVsF_-TCfFVfCdio130_provenance http://rdf.disgenet.org/nanopublications.trig#NP46751.RAmFREYhP9RmnHlTD0ydg93izL58HBVsF_-TCfFVfCdio http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP46751.RAmFREYhP9RmnHlTD0ydg93izL58HBVsF_-TCfFVfCdio130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP46751.RAmFREYhP9RmnHlTD0ydg93izL58HBVsF_-TCfFVfCdio http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP46751.RAmFREYhP9RmnHlTD0ydg93izL58HBVsF_-TCfFVfCdio130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP46751.RAmFREYhP9RmnHlTD0ydg93izL58HBVsF_-TCfFVfCdio130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP46751.RAmFREYhP9RmnHlTD0ydg93izL58HBVsF_-TCfFVfCdio130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP46751.RAmFREYhP9RmnHlTD0ydg93izL58HBVsF_-TCfFVfCdio130_assertion http://identifiers.org/ncbigene/1186 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0029456 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/gene-disease-association.ttl#DGNf6032e90a6edb0266f988502145b0efa http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1186 http://rdf.disgenet.org/gene-disease-association.ttl#DGNf6032e90a6edb0266f988502145b0efa http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0029456 http://rdf.disgenet.org/gene-disease-association.ttl#DGNf6032e90a6edb0266f988502145b0efa http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/nanopublications.trig#NP46751.RAmFREYhP9RmnHlTD0ydg93izL58HBVsF_-TCfFVfCdio130_provenance http://rdf.disgenet.org/nanopublications.trig#NP46751.RAmFREYhP9RmnHlTD0ydg93izL58HBVsF_-TCfFVfCdio130_assertion http://purl.org/dc/terms/description [ In 56 of 94 patients with a classical picture of ARO, TCIRG1-dependent recessive mutations were found. In contrast, ClCN7 mutations were found in 12 cases (13%) of severe osteopetrosis, but only 7 of them had two recessive mutations identified: in 6 of these 7 cases, central nervous system manifestations were noted, and these patients had a poor prognosis. The remaining five cases were heterozygous for a ClCN7 mutation, including two brothers from a large family with a history of ADO-II in which the presence of a second ClCN7 mutation was formally excluded. Despite an early and severe clinical presentation, these five patients all reached adulthood, suggesting that the degree of dominant interference with chloride channel function can vary widely. Our findings suggest that recessive ClCN7-dependent ARO may be associated with CNS involvement and have a very poor prognosis, whereas heterozygous ClCN7 mutations cause a wide range of phenotypes even in the same family, ranging from early severe to nearly asymptomatic forms. These findings have prognostic implications, might complicate prenatal diagnosis of human osteopetroses, and could be relevant to the management of these patients.]. 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