Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome)

Deletion 22q11.2 syndrome (Del22) (DiGeorge/Velo-Cardio-Facial syndrome) is characterized by congenital heart defect (CHD), palatal anomalies, facial dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning disabilities. CHD is present in 75% of patients with Del22. The most frequent...

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Autores principales: Digilio, MC, Marino, B, Capolino, R, Dallapiccola, B
Formato: Artigo
Lenguaje:Inglês
Publicado: Medknow Publications & Media Pvt Ltd 2005
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Original Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3232571/
https://ncbi.nlm.nih.gov/pubmed/22368650
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