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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Hum Genome Var
Main Authors: Ikeda, Shoko, Akamatsu, Chika, Ijuin, Akifumi, Nagashima, Ami, Sasaki, Megumi, Mochizuki, Akihiko, Nagase, Hiromi, Enomoto, Yumi, Kuroda, Yukiko, Kurosawa, Kenji, Ishikawa, Hiroshi
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2020
Fag:
Data Report
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker