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Journal of Medical Genetics logoLink to Journal of Medical Genetics
letter
. 2003 Jun;40(6):441–446. doi: 10.1136/jmg.40.6.441

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

N Philip, B Chabrol, A Lossi, C Cardoso, R Guerrini, W Dobyns, C Raybaud, L Villard
PMCID: PMC1735502  PMID: 12807966

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