T-box genes in human disorders
EA Packham, JD Brook - Human molecular genetics, 2003 - academic.oup.com
EA Packham, JD Brook
Human molecular genetics, 2003•academic.oup.comThe 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 …
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 …
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.
Oxford University Press