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Novel Mutation in TP63 Associated with Ectrodactyly Ectodermal Dysplasia and Clefting Syndrome and T cell Lymphopenia
A male child with clinical features consistent with EEC/EECUT plus syndrome(ectrodactyly, ectodermal dysplasia, clefting, urinary tract abnormalities and thymic abnormalities) including mild ectodermal abnormalities, ectrodactyly of hands and feet, cleft palate, bilateral hydronephrosis and T cell l...
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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5484633/ https://ncbi.nlm.nih.gov/pubmed/23613309 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35885 |
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