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Mortality in Joubert syndrome

Published:2017-03-28 Issue:5 Volume:173 Page:1237-1242
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Dempsey Jennifer C.¹^ORCID,Phelps Ian G.¹,Bachmann‐Gagescu Ruxandra²,Glass Ian A.¹³,Tully Hannah M.³⁴,Doherty Dan¹³

Affiliation:

1. Department of PediatricsUniversity of WashingtonSeattleWashington

2. Institute for Molecular Life Sciences and Institute of Medical GeneticsUniversity of ZurichZurichSwitzerland

3. Seattle Children's Research InstituteSeattleWashington

4. Department of NeurologyUniversity of WashingtonSeattleWashington

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38158

Reference22 articles.

1. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

2. Standard Terminology for Fetal, Infant, and Perinatal Deaths

3. Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

4. Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development

5. Joubert Syndrome: Episodic Hyperpnea, Abnormal Eye Movements, Retardation and Ataxia, Associated with Dysplasia of the Cerebellar Vermis

Cited by 21 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Progressive Dysphagia in Joubert Syndrome: A Report of a Rare Case;Cureus;2024-08-11

2. Phenotypical Aspects of a Familial Syndromic Retinitis Pigmentosa;Open Journal of Ophthalmology;2024

3. A Brief Focus on Joubert Syndrome and Related Acute Complications;Journal of Pediatric Neurology;2023-01-05

4. Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology;International Journal of Molecular Sciences;2022-08-26

5. Attention to renal involvement: report of 17 Joubert syndrome cases in children of a single center in China;BMC Pediatrics;2022-07-20

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