Type II benign osteopetrosis (Albers-Schönberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations.

Letizia, C; Taranta, A; Migliaccio, S; Caliumi, C; Diacinti, D; Delfini, E; D'Erasmo, E; Iacobini, M; Roggini, M; Albagha, O M E; Ralston, S H; Teti, A

Letizia, C; Taranta, A; Migliaccio, S; Caliumi, C; Diacinti, D; Delfini, E; D'Erasmo, E; Iacobini, M; Roggini, M; Albagha, O M E; Ralston, S H; Teti, A.

Affiliation

Letizia C; Department of Clinical Science, Division of Internal Medicine, University of Rome La Sapienza, Rome, Italy.

Calcif Tissue Int ; 74(1): 42-6, 2004 Jan.

Article in En | MEDLINE | ID: mdl-14564431

Subject(s)

Chloride Channels/genetics; Mutation; Osteopetrosis/genetics; Osteopetrosis/pathology; Adolescent; Amino Acid Substitution; Aspartic Acid/metabolism; Biomarkers/blood; Cells, Cultured; DNA Mutational Analysis; Exons; Genes, Dominant; Heterozygote; Humans; Male; Osteoclasts/cytology; Osteoclasts/metabolism; Osteopetrosis/diagnostic imaging; Osteopetrosis/physiopathology; Pedigree; RNA, Messenger/genetics; Radiography; Sequence Analysis, DNA

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Collection: 01-internacional Database: MEDLINE Main subject: Osteopetrosis / Chloride Channels / Mutation Type of study: Diagnostic_studies Limits: Adolescent / Humans / Male Language: En Journal: Calcif Tissue Int Year: 2004 Document type: Article

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