22q and two: 22q11.2 deletion syndrome and coexisting conditions

22q11.2 deletion syndrome (DS) is the most frequent copy number variant (CNV) affecting ~1/1,000 fetuses and ~1/2,000–4,000 children, resulting in recognizable but variable findings across multiple organ systems. Patients with atypical features should prompt consideration of coexisting diagnoses due...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Am J Med Genet A
Autores principales: Cohen, Jennifer L., Crowley, Terrence B., McGinn, Daniel E., McDougall, Carey, Unolt, Marta, Lambert, Michele P., Emanuel, Beverly S., Zackai, Elaine H., McDonald-McGinn, Donna M.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2018
Materias:
Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6467269/
https://ncbi.nlm.nih.gov/pubmed/30244528
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.40494
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares