Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations
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Publication year
2011Source
American Journal of Medical Genetics. Part A, 155A, 9, (2011), pp. 2331-2; author reply 2333-4ISSN
Publication type
Article / Letter to editor
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Organization
Paediatrics - OUD tm 2017
Laboratory of Genetic, Endocrine and Metabolic Diseases
Neurology
Journal title
American Journal of Medical Genetics. Part A
Volume
vol. 155A
Issue
iss. 9
Page start
p. 2331
Page end
p. 2; author reply 2333-4
Subject
DCN 1: Perception and Action IGMD 4: Glycostation disorders; DCN 3: Neuroinformatics; IGMD 3: Genomic disorders and inherited multi-system disorders; IGMD 4: Glycostation disordersThis item appears in the following Collection(s)
- Academic publications [238430]
- Electronic publications [122512]
- Faculty of Medical Sciences [90359]
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