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May 25, 2017Open Access

[Prenatal diagnosis of Joubert syndrome:one case report and literature review].

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Authors

HWHong WenDalian Institute of Chemical Physics LCLu Chen KYKai YanTongji University

Abstract

gene (c.2728C > T and c.4598T > C), which might be the cause of the disease.

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Wen et al. (2017) studied this question.

synapsesocial.com/papers/6aa7e1aeb05f134000da0e09 https://doi.org/10.3785/j.issn.1008-9292.2017.06.08

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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Joubert Syndrome: Episodic Hyperpnea, Abnormal Eye Movements, Retardation and Ataxia, Associated with Dysplasia of the Cerebellar VermisOriginal Research · 1977 · 167 citations
2Sonographic ‘molar tooth’ sign in the diagnosis of Joubert syndromeOriginal Research · 2011 · 41 citations
3Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disordersOriginal Research · 2013 · 48 citations
4Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar DisordersCohort Study · 2009 · 56 citations
5Diffusion Tensor Imaging in Joubert SyndromeOriginal Research · 2007 · 150 citations