| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5905016 | European Journal of Medical Genetics | 2012 | 7 Pages |
Abstract
⺠Presenting the ninth published case of the recessive disorder ALG8-CDG (CDG-Ih). ⺠Comparison of phenotypes and genotypes in the previous reported ALG8-CDG cases. ⺠Show clinical utility of exome sequencing for genetically heterogeneous disorders.
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Authors
Hanne Sorte, Lars Mørkrid, Olaug Rødningen, Mari Ann Kulseth, Asbjørg Stray-Pedersen, Gert Matthijs, Valerie Race, Gunnar Houge, Torunn Fiskerstrand, Bjørn Bjurulf, Robert Lyle, Trine Prescott,