Velocardiofacial syndrome

Definition:

Velocardiofacial syndrome (VCFS) is a condition characterized by multiple congenital abnormalities affecting tissues derived from neural crest cells. Individuals with VCFS are reported to have distinctive dysmorphology, congenital heart disease, learning disabilities, and high rates of psychiatric disorder, especially schizophrenia.

References:

[1]. Hisato Yagi, et al. Role of TBX1 in human del22q11.2 syndrome. Lancet. 2003 Oct 25;362(9393):1366-73. [Content Brief]

[2]. K C Murphy, et al. Velo-cardio-facial syndrome: a model for understanding the genetics and pathogenesis of schizophrenia. Br J Psychiatry. 2001 Nov;179:397-402. [Content Brief]

[3]. Kieran C Murphy, et al. Schizophrenia and velo-cardio-facial syndrome. Lancet. 2002 Feb 2;359(9304):426-30. [Content Brief]

[4]. Zahra Motahari, et al. In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?. J Neurodev Disord. 2019 Jun 7;11(1):7. [Content Brief]

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