The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis
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DOI: 10.1111/cge.12804
Abstract: Autosomal recessive malignant infantile osteopetrosis is a congenital disease characterized by pathologically increased bone density. Recently, the use of whole exome sequencing has been utilized as a clinical diagnostic tool in a number of Mendelian… read more here.
Keywords: whole exome; exome sequencing; infantile osteopetrosis; malignant infantile ... See more keywords
Malignant Infantile osteopetrosis.
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DOI: 10.32641/rchped.v90i4.987
Abstract: INTRODUCTION Malignant Infantile Osteopetrosis (MIOP) is a rare and severe genetic disorder due to abnormal osteoclast activity. OBJECTIVE To report an infant who presented Malignant Infantile Osteopetrosis, reviewing the most relevant diagnostic and therapeutic aspects.… read more here.
Keywords: miop; infantile osteopetrosis; malignant infantile; diagnosis ... See more keywords