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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Publicat a:Mol Genet Genomic Med
Autors principals: von Bohlen, Anna E., Böhm, Johann, Pop, Ramona, Johnson, Diana S., Tolmie, John, Stücker, Ralf, Morris‐Rosendahl, Deborah, Scherer, Gerd
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2017
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Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5441400/
https://ncbi.nlm.nih.gov/pubmed/28546996
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.282
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