A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

Mutations in the coding region of the TWIST gene (encoding a basic helix-loop-helix transcription factor) have been identified in some cases of Saethre-Chotzen syndrome. Haploinsufficiency appears to be the pathogenic mechanism involved. To investigate the possibility that complete deletions of the...

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Detalhes bibliográficos
Main Authors: Johnson, D, Horsley, S W, Moloney, D M, Oldridge, M, Twigg, S R, Walsh, S, Barrow, M, Njølstad, P R, Kunz, J, Ashworth, G J, Wall, S A, Kearney, L, Wilkie, A O
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377539/
https://ncbi.nlm.nih.gov/pubmed/9792856
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