Overt Cleft Palate Phenotype and TBX1 Genotype Correlations in Velo-cardio-facial/DiGeorge/22q11.2 Deletion Syndrome Patients

Velo-cardio-facial syndrome/DiGeorge syndrome, also known as 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome, with an estimated incidence of 1/2,000 – 1/4,000 live births. Approximately 9–11% of patients with this disorder have an overt cleft palate (CP), but the geneti...

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Main Authors: Herman, Sean B., Guo, Tingwei, McGinn, Donna M. McDonald, Blonska, Anna, Shanske, Alan L., Bassett, Anne S., Chow, Eva WC, Bowser, Mark, Sheridan, Molly, Beemer, Frits, Devriendt, Koen, Swillen, Ann, Breckpot, Jeroen, Digilio, M. Cristina, Marino, Bruno, Dallapiccola, Bruno, Carpenter, Courtney, Zheng, Xin, Johnson, Jacob, Chung, Jonathan, Higgins, Anne Marie, Philip, Nicole, Simon, Tony, Coleman, Karlene, Heine-Suner, Damian, Rosell, Jordi, Kates, Wendy, Devoto, Marcella, Zackai, Elaine, Wang, Tao, Shprintzen, Robert, Emanuel, Beverly S., Morrow, Bernice E.
Format: Artigo
Jezik:Inglês
Izdano: 2012
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3477281/
https://ncbi.nlm.nih.gov/pubmed/23034814
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35512
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