LPIN2

Pathology

 germline mutations in the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome) (MIM.609628)

References

 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. : Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J. Med. Genet. 42: 551-557, 2005. PubMed ID : 15994876