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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Vydáno v:Am J Med Genet A
Hlavní autoři: Giampietro, Philip F., Baker, Mei W., Basehore, Monica J., Jones, Julie R., Seroogy, Christine M.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
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Article
On-line přístup: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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