Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome-Reference-Cited by-同舟云学术

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome

Published:2023-01 Issue: Volume:224 Page:107560
ISSN:0303-8467
Container-title:Clinical Neurology and Neurosurgery
language:en
Short-container-title:Clinical Neurology and Neurosurgery

Author:

Aksu Uzunhan Tuğçe,Ertürk Biray,Aydın Kürşad,Ayaz Akif^ORCID,Altunoğlu Umut,Yarar Murat Hakkı,Gezdirici Alper,İçağasıoğlu Dilara Füsun,Gökpınar İli Ezgi,Uyanık Bülent,Eser Metin^ORCID,Kutbay Yaşar Bekir,Topçu Yasemin,Kılıç Betül,Bektaş Gonca,Arduç Akçay Ayfer,Ekici Barış,Chousein Amet,Avcı Şahin,Yüksel Atıl,Kayserili Hülya^ORCID

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Surgery

Reference24 articles.

1. The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders;Sattar;Dev. Med. Child Neurol.,2011

2. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome;Parisi;Am. J. Hum. Genet.,2004

3. Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center;Vilboux;Genet. Med.,2017

4. The importance of a single primary cilium;Mahjoub;Organogenesis,2013

5. The primary cilium: a signalling centre during vertebrate development;Goetz;Nat. Rev. Genet.,2010

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