Partial KCNQ1OT1 hypomethylation: A disguised familial Beckwith–Wiedemann syndrome as a sporadic adrenocortical tumor

Beckwith–Wiedemann syndrome has a wide spectrum of complications such as embryonal tumors, namely adrenocortical tumor. Tumor predisposition is one of the most challenging manifestations of this syndrome. A 45-day old female with a family history of adrenocortical tumor presented with adrenocortical...

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Pubblicato in:Appl Transl Genom
Autori principali: H'mida Ben-Brahim, Dorra, Hammami, Sabeur, Haddaji Mastouri, Marwa, Trabelsi, Saoussen, Chourabi, Maroua, Sassi, Sihem, Mougou, Soumaya, Gribaa, Moez, Zakhama, Abdelfattah, Guédiche, Mohamed Neji, Saad, Ali
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2014
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4745355/
https://ncbi.nlm.nih.gov/pubmed/26937341
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.atg.2014.10.001
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