Central 22q11.2 deletions

Central 22q11.2 deletions

22q11.2 deletion syndrome is one of the most common microdeletion syndromes. Most patients have a deletion resulting from a recombination of low copy repeat blocks LCR22‐A and LCR22‐D. Loss of the TBX1 gene is considered the most important cause of the phenotype. A limited number of patients with sm...

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Autores principales: Patrick Rump, Nicole de Leeuw, Anthonie J. van Essen, Corien C. Verschuuren‐Bemelmans, Hermine E. Veenstra‐Knol, Mariëlle E.M. Swinkels, Wilma Oostdijk, Claudia Ruivenkamp, William Reardon, Sonja de Munnik, Mariken Ruiter, Ayala Frumkin, Dorit Lev, Christina Evers, Birgit Sikkema‐Raddatz, Trijnie Dijkhuizen, Conny M.A. van Ravenswaaij‐Arts
Formato: Artigo
Lenguaje:inglés
Publicado: 2014
Acceso en línea:https://doi.org/10.1002/ajmg.a.36711
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https://doi.org/10.1002/ajmg.a.36711

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