Article
DLX3 homeodomain mutations cause tricho-dento-osseous syndrome with novel phenotypes.
Cells, tissues, organs - 1 Jan 2011
Nieminen Pekka, Lukinmaa Pirjo-Liisa, Alapulli Heikki, Methuen Mirja, Suojärvi Timo, Kivirikko Sirpa, Peltola Jaakko, Asikainen Mikko, Alaluusua Satu
Abstract excerpt
Tricho-dento-osseous syndrome (TDO) is a rare type of dominantly inherited ectodermal dysplasia so far described only in a few families and associated with 3 known mutations in the DLX3 homeobox gene. Here, we describe two families of Finnish origin that segregate features of TDO in several generations. The affected family members have sparse or curly/kinky hair at birth, markedly delayed or advanced dental...
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