Article
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).
Journal of medical genetics - 1 Jul 2005
Ferguson P J, Chen S, Tayeh M K, Ochoa L, Leal S M, Pelet A, Munnich A, Lyonnet S, Majeed H A, El-Shanti H
Abstract excerpt
BACKGROUND: Majeed syndrome is an autosomal recessive, autoinflammatory disorder characterised by chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. The objectives of this study were to map, identify, and characterise the Majeed syndrome causal gene and to speculate on its function and role in skin and bone inflammation. METHODS: Six individuals with Majeed syndrome from two...
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