Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Congenital disorder of glycosylation 1A

Jaeken syndrome is an autosomal recessive congenital disorder of glycosylation type 1A. It is caused by mutations of the PMM2 gene.

Systematic

Congenital disorder of glycosylation
Congenital disorder of glycosylation 1A
PMM2
Congenital disorder of glycosylation 1L
Gillessen-Kaesbach-Nishimura syndrome

References:

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3.

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39.

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50.

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51.

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52.

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53.

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54.

Kane MS et. al. (2016) Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

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Update: Sept. 26, 2018