Article
Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia.
Human molecular genetics - 1 Dec 2005
Kist Ralf, Watson Michelle, Wang Xiaomeng, Cairns Paul, Miles Colin, Reid Donald J, Peters Heiko
Abstract excerpt
Missing teeth (hypodontia and oligodontia) are a common developmental abnormality in humans and heterozygous mutations of PAX9 have recently been shown to underlie a number of familial, non-syndromic cases. Whereas PAX9 haploinsufficiency has been suggested as the underlying genetic mechanism, it is not known how this affects tooth development. Here we describe a novel, hypomorphic Pax9 mutant allele (Pax9neo)...
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