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Independent De Novo 22q11.2 Deletions in First Cousins With DiGeorge/Velocardiofacial Syndrome

Deletions of chromosome 22q11.2 are found in the vast majority of patients with DiGeorge/velocardiofacial syndrome (DGS/VCFS). This most frequent microdeletion syndrome is estimated to occur in 1 in 4,000 live births. The majority of deletions are de novo, with 10% or less inherited from an affected...

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Detalhes bibliográficos
Main Authors: Saitta, Sulagna C., Harris, Stacy E., McDonald-McGinn, Donna M., Emanuel, Beverly S., Tonnesen, Melissa K., Zackai, Elaine H., Seitz, Suzanne C., Driscoll, Deborah A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2004
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2811370/
https://ncbi.nlm.nih.gov/pubmed/14708107
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.20421
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