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A mutation creating an upstream initiation codon in the SOX9 5′ UTR causes acampomelic campomelic dysplasia

BACKGROUND: Campomelic dysplasia (CD) is a semilethal developmental disorder caused by mutations in and around SOX9. CD is characterized by multiple skeletal malformations including bending (campomelia) of long bones. Surviving patients frequently have the acampomelic form of CD (ACD). METHODS: This...

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Detalles Bibliográficos
Autores principales:	von Bohlen, Anna E., Böhm, Johann, Pop, Ramona, Johnson, Diana S., Tolmie, John, Stücker, Ralf, Morris‐Rosendahl, Deborah, Scherer, Gerd
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5441400/ https://www.ncbi.nlm.nih.gov/pubmed/28546996 http://dx.doi.org/10.1002/mgg3.282

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