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https://hdl.handle.net/2440/32922
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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 1096-8628 |
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 |
DOI: | 10.1002/1096-8628(20000828)93:5<421::aid-ajmg14>3.0.co;2-5 |
Published version: | http://dx.doi.org/10.1002/1096-8628(20000828)93:5%3C421::aid-ajmg14%3E3.3.co;2-x |
Appears in Collections: | Aurora harvest Paediatrics publications |
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