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A case of polimalformed fetus with a microdeletion of CTNNA3 gene

We report a case of a male fetus of 20 weeks of gestation with plurimalformed observed by transonic scan and confirmed by MR. The karyotype was 46, XY. Molecular analysis showed a microdeletion of about 100 kb in the CTNNA3 gene.

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Dades bibliogràfiques
Publicat a:J Prenat Med
Autors principals: Cancemi, Dino, Urciuoli, Maria, Morelli, Franco, Lonardo, Maria Concetta, Lonardo, Valeria, Spampanato, Carmine, Ventruto, Marialuisa, Ventruto, Valerio, Sica, Carmine
Format: Artigo
Idioma:Inglês
Publicat: CIC Edizioni Internazionali 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5505477/
https://ncbi.nlm.nih.gov/pubmed/28725342
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.11138/jpm/2016.10.3.020
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