De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.
SourceAmerican Journal of Medical Genetics. Part A, 158A, 4, (2012), pp. 927-31
01 april 2012
Article / Letter to editor
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Paediatrics - OUD tm 2017
Laboratory of Genetic, Endocrine and Metabolic Diseases
American Journal of Medical Genetics. Part A
SubjectIGMD 4: Glycostation disorders
This item appears in the following Collection(s)
- Academic publications 
- Faculty of Medical Sciences 
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