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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease polydactyly
Comorbidity C0010278|craniosynostosis
Sentences 2
PubMedID- 20935057 The mice harboring this mutation were termed charlie chaplin (cc/+) and displayed a craniosynostosis phenotype with limb polydactyly highlighting the importance of the twist box for dictating proper bone formation.
PubMedID- 22234151 In contrast, a approximately 600-kb deletion 5' of ihh in the doublefoot mouse mutant (dbf) leads to severe polydactyly without craniosynostosis, but with craniofacial dysmorphism.

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