22q13.3 Deletion Syndrome: Clinical and Molecular Analysis Using Array CGH

The 22q13.3 deletion syndrome results from loss of terminal segments of varying sizes at 22qter. Few genotype–phenotype correlations have been found but all patients have mental retardation and severe delay, or absence of, expressive speech. We carried out clinical and molecular characterization of...

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Autors principals: Dhar, S.U., del Gaudio, D., German, J.R., Peters, S.U., Ou, Z., Bader, P.I., Berg, J.S., Blazo, M., Brown, C.W., Graham, B.H., Grebe, T.A., Lalani, S., Irons, M., Sparagana, S., Williams, M., Phillips, J.A., Beaudet, A.L., Stankiewicz, P., Patel, A., Cheung, S.W., Sahoo, T.
Format: Artigo
Idioma:Inglês
Publicat: 2010
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3119894/
https://ncbi.nlm.nih.gov/pubmed/20186804
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33253
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