De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.
Publication year
2012Source
American Journal of Medical Genetics. Part A, 158A, 4, (2012), pp. 927-31ISSN
Annotation
01 april 2012
Publication type
Article / Letter to editor

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Organization
Paediatrics - OUD tm 2017
Laboratory of Genetic, Endocrine and Metabolic Diseases
Journal title
American Journal of Medical Genetics. Part A
Volume
vol. 158A
Issue
iss. 4
Page start
p. 927
Page end
p. 31
Subject
IGMD 4: Glycostation disordersThis item appears in the following Collection(s)
- Academic publications [226902]
- Faculty of Medical Sciences [86456]
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