title: Acampomelic campomelic dysplasia with SOX9 mutation.
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.
authors.affiliation: South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia, Australia. thongm@cryptic.rch.unimelb.edu.au
authors.forename: M K
authors.initials: MK
authors.lastname: Thong
authors.forename: G
authors.initials: G
authors.lastname: Scherer
authors.forename: K
authors.initials: K
authors.lastname: Kozlowski
authors.forename: E
authors.initials: E
authors.lastname: Haan
authors.forename: L
authors.initials: L
authors.lastname: Morris
mesh_terms: D006609:High Mobility Group Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D055758:SOX9 Transcription Factor; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D006609:High Mobility Group Proteins; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D014157:Transcription Factors