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Case Reports
. 2004 Oct;41(10):e115.
doi: 10.1136/jmg.2004.020701.

POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease

C Diesen, A Saarinen, H Pihko, C Rosenlew, B Cormand, W B Dobyns, J Dieguez, L Valanne, T Joensuu, A-E Lehesjoki
Case Reports

POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease

C Diesen et al. J Med Genet. 2004 Oct.
No abstract available

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