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Details on Person Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect
| Class:Id | LiteratureReference:5653592 |
| _displayName | Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect |
| _timestamp | 2014-12-01 15:59:07 |
| author | [Person:5653612] Dauber, Andrew [Person:5653614] Ercan, Altan [Person:5653585] Lee, Jack [Person:5653616] James, Philip [Person:5653613] Jacobs, Pieter P [Person:5653604] Ashline, David J [Person:5653608] Wang, Sophie R [Person:5653617] Miller, Timothy [Person:188996] Hirschhorn, JN [Person:5653600] Nigrovic, Peter A [Person:3274521] Sackstein, Robert |
| created | [InstanceEdit:5653590] Jassal, Bijay, 2014-12-01 |
| journal | Hum. Mol. Genet. |
| pages | 2880-7 |
| pubMedIdentifier | 24403049 |
| title | Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect |
| volume | 23 |
| year | 2014 |
| (literatureReference) | [FailedReaction:5653596] Defective SLC35C1 does not transport UDP-Fuc from cytosol to Golgi lumen [Homo sapiens] |
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No pathways have been reviewed or authored by Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect (5653592)