The 22q11.2 Deletion in African-American Patients: An Underdiagnosed Population?

Findings associated with the 22q11.2 deletion often include congenital heart malformations, palatal anomalies, immunodeficiency, hypocalcemia, and developmental delay or learning disabilities. Often the clinical suspicion of the diagnosis in a patient with one or more of these findings is heightened...

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Detalhes bibliográficos
Main Authors: McDonald-McGinn, Donna M., Minugh-Purvis, Nancy, Kirschner, Richard E., Jawad, Abbas, Tonnesen, Melissa K., Catanzaro, Jason R., Goldmuntz, Elizabeth, Driscoll, Deborah, LaRossa, Don, Emanuel, Beverly S., Zackai, Elaine H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2005
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2810968/
https://ncbi.nlm.nih.gov/pubmed/15754359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.30069
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