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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Digilio, MC, Marino, B, Capolino, R, Dallapiccola, B
Médium: Artigo
Jazyk:Inglês
Vydáno: Medknow Publications & Media Pvt Ltd 2005
Témata:
Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3232571/
https://ncbi.nlm.nih.gov/pubmed/22368650
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky