Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center | Zendy

Thierry Vilboux | Zendy; Dan Doherty | Zendy; Ian Glass | Zendy; Melissa A. Parisi | Zendy; Ian G. Phelps | Zendy; Andrew R. Cullinane | Zendy; Wadih M. Zein | Zendy; Brian P. Brooks | Zendy; Theo Heller | Zendy; Ariane Soldatos | Zendy; Neal L. Oden | Zendy; Deniz Yildirimli | Zendy; Meghana Vemulapalli | Zendy; James C. Mullikin | Zendy; May Christine V. Malicdan | Zendy; William A. Gahl | Zendy; Meral GunayAygun | Zendy

Open Access

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

Author(s) -

Thierry Vilboux,

Dan Doherty,

Ian Glass,

Melissa A. Parisi,

Ian G. Phelps,

Andrew R. Cullinane,

Wadih M. Zein,

Brian P. Brooks,

Theo Heller,

Ariane Soldatos,

Neal L. Oden,

Deniz Yildirimli,

Meghana Vemulapalli,

James C. Mullikin,

May Christine V. Malicdan,

William A. Gahl,

Meral GunayAygun

Publication year - 2017

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2016.204

Subject(s) - joubert syndrome , medicine , ciliopathy , exome sequencing , bioinformatics , disease , pathology , genetic counseling , genetics , phenotype , biology , gene

Joubert syndrome (JS) is a genetically and clinically heterogeneous ciliopathy characterized by distinct cerebellar and brainstem malformations resulting in the diagnostic "molar tooth sign" on brain imaging. To date, more than 30 JS genes have been identified, but these do not account for all patients.

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