Cleidocranial dysplasia is due to a defect in which gene
Correct Answer: RUNX2
Description: Loss-of-function mutations in the RUNX2 gene result in cleidocranial dysplasia, an autosomal dominant disorderIt is characterized by patent fontanelles, delayed closure of cranial sutures, Wormian bones (extra bones that occur within a cranial suture), delayed eruption of secondary teeth, primitive clavicles, and sho height.Robbins pathology 9e pg: 1184
Category:
Pathology
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