title: T-box genes in human disorders.
abstract: The T-box gene family encodes a large family of transcription factors with more than 20 members identified in humans so far, and homologues in many other organisms. A number of human disorders have been linked to mutations in T-box genes, confirming their medical importance. They include Holt- Oram syndrome/TBX5, Ulnar-Mammary syndrome/TBX3, and more recently DiGeorge syndrome/TBX1, ACTH deficiency/TBX19 and cleft palate with ankyloglossia/TBX22. This review describes the key features of these disorders and the involvement of T-box genes in their phenotype.
authors.affiliation: Institute of Genetics, University of Nottingham, Queen's Medical Centre, Nottingham, NG7 2UH, UK.
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Packham
authors.forename: J David
authors.initials: JD
authors.lastname: Brook
mesh_terms: D000324:Adrenocorticotropic Hormone / Q000172:deficiency; D000818:Animals; D001842:Bone and Bones; D004062:DiGeorge Syndrome / Q000235:genetics; D006801:Humans; D051379:Mice; D008957:Models, Genetic; D009154:Mutation; D010641:Phenotype; D013577:Syndrome; D020825:T-Box Domain Proteins / Q000235:genetics* / Q000378:metabolism / Q000502:physiology*; D014965:X-Rays
chemical_list: D020825:T-Box Domain Proteins; D000324:Adrenocorticotropic Hormone