DLX4, distal-less homeobox 4, 1748

N. diseases: 105; N. variants: 3
Disease: Tricho-dento-osseous syndrome (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265333
Disease: Tricho-dento-osseous syndrome (disorder)
Tricho-dento-osseous syndrome (disorder) 		0.020 GeneticVariation disease BEFREE To determine if AIHHT and TDO represent variable expression of a common DLX3 gene mutation, allelic mutations of the DLX3 gene, or mutations in DLX7 (the linked paralogue to DLX3 on chromosome 17), we have performed mutational analysis and sequencing studies of the DLX3 and DLX7 genes in three individuals (two affected and one unaffected) from a family with AIHHT. 10466415 1999
CUI: C0265333
Disease: Tricho-dento-osseous syndrome (disorder)
Tricho-dento-osseous syndrome (disorder) 		0.020 GeneticVariation disease BEFREE In this paper we describe genomic cloning and sequencing of both human DLX3 and DLX7 and identification of a 4 bp deletion in human DLX3 which correlates with the TDO phenotype in six families. 9467018 1998