Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.

doi:10.1002/humu.21167

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Article

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.

Human mutation - 1 Jan 2010

Pangrazio Alessandra, Pusch Michael, Caldana Elena, Frattini Annalisa, Lanino Edoardo, Tamhankar Parag M, Phadke Shubha, Lopez Antonio Gonzalez Meneses, Orchard Paul, Mihci Ercan, Abinun Mario, Wright Michael, Vettenranta Kim, Bariae Ivo, Melis Daniela, Tezcan Ilhan, Baumann Clarisse, Locatelli Franco, Zecca Marco, Horwitz Edwin, Mansour Lamia Sfaihi Ben, Van Roij Mirjam, Vezzoni Paolo, Villa Anna, Sobacchi Cristina

Abstract excerpt

The "Osteopetroses" are genetic diseases whose clinical picture is caused by a defect in bone resorption by osteoclasts. Three main forms can be distinguished on the basis of severity, age of onset and means of inheritance: the dominant benign, the intermediate and the recessive severe form. While several genes have been involved in the pathogenesis of the different types of osteopetroses, the CLCN7 gene has...

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Identifiers

PMID: 19953639
DOI: 10.1002/humu.21167

Genes

CLCN7
ADO

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