[Autosomal dominant osteopetrosis: a presentation of 3 cases and a new gene mutation].

doi:10.1016/j.anpedi.2014.03.014

Article

[Autosomal dominant osteopetrosis: a presentation of 3 cases and a new gene mutation].

Anales de pediatria (Barcelona, Spain : 2003) - 1 Jan 2015

Janer Subías E, de Arriba Muñoz A, García Iñiguez J P, Ferrer Lozano M, Sanchez Del Pozo J, Labarta Aizpun J I

Abstract excerpt

Osteopetrosis (OP) is a congenital bone disease which is caused by a functional disorder in osteoclasts with inability for normal bone resorption, leading to increased bone mineral density and bone sclerosis. It can be classified into different groups according to their clinical and their genetic characteristics: autosomal recessive with several subtypes (OPTB) or autosomal dominant type 1 or 2 (OPTA1-2). There...

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[Autosomal dominant osteopetrosis: a presentation of 3 cases and a new gene mutation].

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