Mutation of PAX9 is associated with oligodontia
DW Stockton, P Das, M Goldenberg, RN D'Souza… - Nature …, 2000 - nature.com
Nature genetics, 2000•nature.com
… We identified a frameshift mutation in the paired domain of PAX9 following genome-wide
analysis of a family segregating autosomal dominant oligodontia. Affected members have
normal primary dentition but lacked most permanent molars. … Our results indicate that the
frameshift mutation in PAX, resulting in an alteration in the paired domain of PAX9, is
associated with tooth agenesis. The mutation may have its effect in one of several ways: (i)
loss of function due to the absence of the DNA-binding domain; (ii) haploinsufficiency …
analysis of a family segregating autosomal dominant oligodontia. Affected members have
normal primary dentition but lacked most permanent molars. … Our results indicate that the
frameshift mutation in PAX, resulting in an alteration in the paired domain of PAX9, is
associated with tooth agenesis. The mutation may have its effect in one of several ways: (i)
loss of function due to the absence of the DNA-binding domain; (ii) haploinsufficiency …
Abstract
We identified a frameshift mutation in the paired domain of PAX9 following genome-wide analysis of a family segregating autosomal dominant oligodontia. Affected members have normal primary dentition but lacked most permanent molars.
nature.com
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