| umls-concept:C1704897 | skos:definition | NCI: Human TWIST1 wild-type allele is located in the vicinity of 17p13.3 and is approximately 16 kb in length. This allele, which encodes twist-related protein 1, plays a role in the regulation of both transcription and cell lineage determination. Mutations in the gene are associated with Saethre-Chotzen, Robinow-Sorauf, and Baller-Gerold syndromes. | lld:umls |
