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Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome

Treacher Collins syndrome (TCS) is associated with an abnormal differentiation of the first and second pharyngeal arches during fetal development. This causes mostly craniofacial deformities, which require numerous corrective surgeries. TCS is an autosomal dominant disorder and it occurs in the gene...

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Detalhes bibliográficos
Main Authors: Marszałek-Kruk, Bożena Anna, Wójcicki, Piotr, Śmigiel, Robert, Trzeciak, Wiesław H.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer-Verlag 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3402658/
https://ncbi.nlm.nih.gov/pubmed/22415350
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-012-0091-3
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