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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