Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region.

Campomelic dysplasia (CD), a skeletal malformation syndrome with or without XY sex reversal, is usually caused by mutations within the SOX9 gene on distal 17q. Several CD translocation and inversion cases have been described with breakpoints outside the coding region, mapping to locations >130 kb...

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Autori principali: Pfeifer, D, Kist, R, Dewar, K, Devon, K, Lander, E S, Birren, B, Korniszewski, L, Back, E, Scherer, G
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1999
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1378081/
https://ncbi.nlm.nih.gov/pubmed/10364523
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