Article
Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis.
The American journal of pathology - 1 Jan 2003
Taranta Anna, Migliaccio Silvia, Recchia Irene, Caniglia Maurizio, Luciani Matteo, De Rossi Giulio, Dionisi-Vici Carlo, Pinto Rita M, Francalanci Paola, Boldrini Renata, Lanino Edoardo, Dini Giorgio, Morreale Giuseppe, Ralston Stuart H, Villa Anna, Vezzoni Paolo, Del Principe Domenico, Cassiani Flaminia, Palumbo Giuseppe, Teti Anna
Abstract excerpt
Autosomal-recessive osteopetrosis is a severe genetic disease caused by osteoclast failure. Approximately 50% of the patients harbor mutations of the ATP6i gene, encoding for the osteoclast-specific a3 subunit of V-ATPase. We found inactivating ATP6i mutations in four patients, and three of these were novel. Patients shared macrocephaly, growth retardation and optic nerve alteration, osteosclerotic and endobone...
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