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Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/32922
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dc.contributor.authorThong, M.-
dc.contributor.authorScherer, G.-
dc.contributor.authorKozlowski, K.-
dc.contributor.authorHaan, E.-
dc.contributor.authorMorris, L.-
dc.date.issued2000-
dc.identifier.citationAmerican Journal of Medical Genetics Part A, 2000; 93(5):421-425-
dc.identifier.issn1552-4825-
dc.identifier.issn1096-8628-
dc.identifier.urihttp://hdl.handle.net/2440/32922-
dc.description.abstractAcampomelic campomelic dysplasia is a rare clinical variant of the more commonly encountered campomelic dysplasia (CMD1), characterized by absence of long bone curvature (acampomelia). We present a patient with acampomelic CMD1 with a de novo SOX9 missense mutation and report his clinical course to age one year, thereby contributing to genotype-phenotype correlation in CMD1. 2000.-
dc.language.isoen-
dc.publisherWiley-Liss-
dc.source.urihttp://dx.doi.org/10.1002/1096-8628(20000828)93:5%3C421::aid-ajmg14%3E3.3.co;2-x-
dc.subjectHumans-
dc.subjectOsteochondrodysplasias-
dc.subjectHigh Mobility Group Proteins-
dc.subjectTranscription Factors-
dc.subjectRadiography-
dc.subjectMutation, Missense-
dc.subjectInfant-
dc.subjectMale-
dc.subjectSOX9 Transcription Factor-
dc.titleAcampomelic campomelic dysplasia with SOX9 mutation-
dc.typeJournal article-
dc.identifier.doi10.1002/1096-8628(20000828)93:5<421::aid-ajmg14>3.0.co;2-5-
pubs.publication-statusPublished-
dc.identifier.orcidHaan, E. [0000-0002-7310-5124]-
Appears in Collections:Aurora harvest
Paediatrics publications

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