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The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2
2010 (English)In: American Journal of Medical Genetics. Part A, ISSN 1552-4825, E-ISSN 1552-4833, Vol. 155, no 1, p. 134-140Article in journal (Refereed) Published
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2010. Vol. 155, no 1, p. 134-140
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Medical Genetics and Genomics
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URN: urn:nbn:se:uu:diva-468509DOI: 10.1002/ajmg.a.33747OAI: oai:DiVA.org:uu-468509DiVA, id: diva2:1648044
Available from: 2022-03-29 Created: 2022-03-29 Last updated: 2025-02-10

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