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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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Dades bibliogràfiques
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: 2005
Matèries:
Accés en línia: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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