Chloride Channel CICN7 Mutations in a Korean Patient with Infantile Malignant Osteopetrosis Initially Presenting with Neonatal Thrombocytopenia

Abstract

Infantile malignant Osteopetrosis (Autosomal Recessive Osteopterosis, ARO, MIM 259700) is a genetically heterogenous autosomal recessive disorder of bone metabolism, which, if untreated, has a fatal outcome. Early death is common, with only 30% survival at 6 years of age. It is characterized by generalized osteosclerosis, secondary to bone marrow failure… (More)
DOI: 10.1038/sj.jp.7211162

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