A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33

BACKGROUND: Subtelomeric deletions of the long arm of chromosome 20 are rare, with only 11 described in the literature. Clinical features of individuals with these microdeletions include severe limb malformations, skeletal abnormalities, growth retardation, developmental and speech delay, mental ret...

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Detalles Bibliográficos
Autores principales: Traylor, Ryan N., Bruno, Damien L., Burgess, Trent, Wildin, Robert, Spencer, Anne, Ganesamoorthy, Devika, Amor, David J., Hunter, Matthew, Caplan, Michael, Rosenfeld, Jill A., Theisen, Aaron, Torchia, Beth S., Shaffer, Lisa G., Ballif, Blake C., Slater, Howard R.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2929201/
https://www.ncbi.nlm.nih.gov/pubmed/20805988
http://dx.doi.org/10.1371/journal.pone.0012462

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2929201/
https://www.ncbi.nlm.nih.gov/pubmed/20805988
http://dx.doi.org/10.1371/journal.pone.0012462

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