Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2

Fraser syndrome (FS) involves multiple malformations and has a 25% recurrence risk among siblings. However, these malformations are difficult to detect prenatally, hampering prenatal diagnosis. Here, we describe a fetus with FS diagnosed using ultrasonography. Ultrasonography revealed congenital hig...

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Detalles Bibliográficos
Publicado en:Hum Genome Var
Autores principales: Ikeda, Shoko, Akamatsu, Chika, Ijuin, Akifumi, Nagashima, Ami, Sasaki, Megumi, Mochizuki, Akihiko, Nagase, Hiromi, Enomoto, Yumi, Kuroda, Yukiko, Kurosawa, Kenji, Ishikawa, Hiroshi
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7532185/
https://ncbi.nlm.nih.gov/pubmed/33082983
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-00119-5
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