(Q35448758)
Statements
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Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). (English)
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Munnich A
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Ferguson PJ
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Chen S
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Tayeh MK
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Ochoa L
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Leal SM
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Pelet A
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Lyonnet S
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Majeed HA
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El-Shanti H
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Identifiers
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