Searchable abstracts of presentations at key conferences on calcified tissues

ba0003cc1 | (1) | ECTS2014

Molecular diagnosis of osteopetrotic patients with atypical presentations using traditional approaches and exome sequencing

Palagano Eleonora , Pangrazio Alessandra , Strina Dario , Puddu Alessandro , Oppo Manuela , Valentini Maria , Vezzoni Paolo , Villa Anna , Sobacchi Cristina

Autosomal Recessive Osteopetrosis (ARO) presents early in life with extreme sclerosis of the skeleton, reduction of bone marrow spaces, hepatosplenomegaly, cranial nerves compression and severe growth failure. ARO is often lethal and at present the only therapy is HSCT, which should be performed as soon as possible in order to obtain a major benefit. ARO is genetically heterogeneous and delays in clinical diagnosis sometimes occur, due to its rareness and to the presence of co...