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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Detalles Bibliográficos
Autores principales: Marszałek-Kruk, Bożena Anna, Wójcicki, Piotr, Śmigiel, Robert, Trzeciak, Wiesław H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer-Verlag 2012
Materias:
Human Genetics • Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3402658/
https://www.ncbi.nlm.nih.gov/pubmed/22415350
http://dx.doi.org/10.1007/s13353-012-0091-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3402658/
https://www.ncbi.nlm.nih.gov/pubmed/22415350
http://dx.doi.org/10.1007/s13353-012-0091-3

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