Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Majeed syndrome is an autosomal recessive disorder caused by mutations of the LPIN2 gene. It is characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis.
Chronic recurrent multifocal osteomyelitis
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Congenital dyserythropoietic anaemia and chronic recurrent multifocal osteomyelitis
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Majeed syndrome
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LPIN2
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| 1. |
Majeed HA et. al. (1989) Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. 
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Majeed HA et. al. (2000) On mice and men: An autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia.
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Majeed HA et. al. (2001) The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review.
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| 4. |
Ferguson PJ et. al. (2005) Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).
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