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PedAM

Pediatric Disease Annotations & Medicines




Disease ectodermal dysplasia
Phenotype C0008925|cleft palate
Sentences 1
PubMedID- 22069181 In fact, p.gln634x specifically affects limb development and results in isolated shfm, while the predicted p.gln566fsx94 mutation causes ectodermal dysplasia with incompletely penetrant cleft palate and normal appendicular structures.

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