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Type: Journal article
Title: Acampomelic campomelic dysplasia with SOX9 mutation
Author: Thong, M.
Scherer, G.
Kozlowski, K.
Haan, E.
Morris, L.
Citation: American Journal of Medical Genetics. Part A, 2000; 93(5):421-425
Publisher: Wiley-Liss
Issue Date: 2000
ISSN: 1552-4825
Abstract: Acampomelic 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.
Keywords: Humans; Osteochondrodysplasias; High Mobility Group Proteins; Transcription Factors; Radiography; Mutation, Missense; Infant; Male; SOX9 Transcription Factor
RMID: 0001003041
DOI: 10.1002/1096-8628(20000828)93:5<421::aid-ajmg14>;2-5
Appears in Collections:Paediatrics publications

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