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Molecular Diagnosis of Non X-linked Ectodermal Dysplasias Using Next Generation Sequencing
Ectodermal Dysplasias (EDs) are rare heterogenous monogenic developmental disorders sharing the impairment of at least two surface ectoderm-derived organs. Symptoms characteristically manifest developmental abnormalities of the teeth, and three skin derivatives: hair follicles, nails, and sweat glan...
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AUC Knowledge Fountain
2023
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