First Prenatal Diagnosis of a Niemann–Pick Disease Type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature

BACKGROUND: The importance of fetal nuchal translucency was highlighted in the early 1990s as a useful first-trimester marker to identify fetal chromosomal abnormalities. Here, we report the prenatal diagnosis of a fetus with Niemann–Pick disease type C initially identified by first-trimester ultras...

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Detalles Bibliográficos
Autores principales: Ples, Liana, Sima, Romina-Marina, Nedelea, Florina, Moga, Marius
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5997782/
https://www.ncbi.nlm.nih.gov/pubmed/29928259
http://dx.doi.org/10.3389/fendo.2018.00292

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5997782/
https://www.ncbi.nlm.nih.gov/pubmed/29928259
http://dx.doi.org/10.3389/fendo.2018.00292

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