Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants-Reference-Cited by-同舟云学术

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Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants

Published:2020-01 Issue:1 Volume:29 Page:10-16
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Lam Zena,Albaba Shadi,Study DDD,Balasubramanian Meena

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference41 articles.

1. Genetic spectrum of saudi arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.;Al-Hamed;J Med Genet,2016

2. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.;Bachmann-Gagescu;J Med Genet,2015

3. Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.;Bachmann-Gagescu;J Med Genet,2012

4. Mutation spectrum of Joubert syndrome and related disorders among arabs.;Ben-Salem;Hum Genome Var,2014

5. Joubert syndrome: ophthalmological findings in correlation with genotype and hepatorenal disease in 99 patients prospectively evaluated at a single center.;Brooks;Ophthalmology,2018

Cited by 6 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. NEXMIF Combined with KIDINS220 Gene Mutation Caused Neurodevelopmental Disorder and Epilepsy: One Case Report;Actas Españolas de Psiquiatría;2024-08-05

2. Alterations in KIDINS220/ARMS Expression Impact Sensory Processing and Social Behavior in Adult Mice;International Journal of Molecular Sciences;2024-02-16

3. Kidins220/ARMS modulates brain morphology and anxiety-like traits in adult mice;Cell Death Discovery;2022-02-09

4. Update of genetic variants in CEP120 and CC2D2A —With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies;Molecular Genetics & Genomic Medicine;2021-01-24

5. Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family;The Journal of Gene Medicine;2020-10-27

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