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Ankyloblepharon-ectodermal Defects-cleft Lip-palate Syndrome Due to a Novel Missense Mutation in the SAM Domain of the TP63 Gene
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare genetic disease with an autosomal dominant transmission, characterized by several congenital anomalies. Clinical features include ectodermal defects affecting the skin, hair, teeth, nails and sweat glands, associated with t...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Balkan J Med Genet |
|---|---|
| Prif Awduron: | , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Sciendo
2020
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7474213/ https://ncbi.nlm.nih.gov/pubmed/32953416 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2478/bjmg-2020-0013 |
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