TBX1

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TBX1

A gene on chromosome 22q11.21 that encodes a DNA-binding member of the phylogenetically conserved family of genes that have a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in regulating development.
 
Molecular pathology
TBX1 deletions are associated with DiGeorge/velocardiofacial syndrome, which is characterised by neural-crest developmental defects.
References in periodicals archive ?
2DS presenta un fenotipo variable que esta relacionado con la edad de los individuos (44) y con la presencia de otros sindromes geneticos, como el VCFS y el DGS (44-47).
2 oscilan entre el 14 y el 53% (7) y se han reportado en los estudios que seleccionaron a pacientes con esquizofrenia que tienen varias de las caracteristicas clinicas del VCFS (26,39,59).
He fulfilled all the Bassett criteria for VCFS except history of hypocalcaemia and athymia.
23-24) It was concluded that craniostenosis should be included in the diagnostic criteria of VCFS.
However, the gene or genes responsible for VCFS have yet to be identified.
The behavioral phenotype of VCFS is summarized below with emphasis on intellectual disability and psychiatric disorders.
The new study, described in the December American Journal of Psychiatry, included psychiatric evaluations and reviews of medical records for 25 people diagnosed with VCFS.
Some people with VCFS had appeared to be schizophrenic because of the severity of their untreated mania.
org 1,2,3,7,8,9 VAN MEERKEREN I SYNDROME See: Ehlers-Danlos Syndrome VASCULAR MALFORMATIONS See: Klippel-Trenaunay Syndrome; Sturge-Weber Syndrome; Von Hippel-Lindau Syndrome VATER ASSOCIATION See: VACTERL Association VELO-CARDIO-FACIAL SYNDROME See also: CHARGE Association; Craniofacial Disorders; Heart Disorders Northeast VCFS Support Group 2 Lansing Dr.
org 1,2,3,4; annual genetics awareness week; counseling, information, and support Northeast VCFS Support Group 2 Lansing Dr.
Association of Genetic Support/Australia AGSA 66 Albion St, Surry Hills, Australia NSW 2010 (02) 9211 1462, (02) 9211 8077 (fax) 1,2,3,4,6,9 Northeast VCFS Support Group 2 Lansing Dr.
Surrey Hills, Australia NSW 2010 (02) 9211 1462 (02) 9211 8077 (fax) 1,2,3,4,6,9 Northeast VCFS Support Group 2 Lansing Dr.