Načítá se...

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...

Celý popis

Uloženo v:
Podrobná bibliografie
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
Témata:
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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!