Majeed Syndrome

in #steempress6 years ago

It is an inherited skin disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and a neutrophilic dermatosis.[1] It is classified as an autoinflammatory bone disorder. The condition is found in people with two defective copies (autosomal recessive inheritance) of the LPIN2 gene. LPIN2 encodes lipin-2 which is involved in lipid metabolism. The pathogenesis of this mutation with the clinical manifestations has not been elucidated.


Posted from my blog with SteemPress : http://127.0.0.1/wordpress/2018/06/07/majeed-syndrome/

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