Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia-Reference-Cited by-同舟云学术

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Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia

Published:2013-12-10 Issue:2 Volume:2 Page:103-106
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Alazami Anas M.¹,Seidahmed Mohammed Zain²,Alzahrani Fatema¹,Mohammed Adam O.³,Alkuraya Fowzan S.¹⁴

Affiliation:

1. Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

2. Department of Pediatrics Security Forces Hospital Riyadh Saudi Arabia

3. Department of Pediatrics National Guard Hospital Dammam Saudi Arabia

4. Department of Anatomy and Cell Biology College of Medicine Alfaisal University Riyadh Saudi Arabia

Funder

KACST

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.44

Reference12 articles.

1. Discovery of Rare Homozygous Mutations from Studies of Consanguineous Pedigrees

2. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

3. Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

4. Connective tissue involvement in two patients with features of cranioectodermal dysplasia

5. Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

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1. Disease modeling and pharmacological rescue of autosomal dominant retinitis pigmentosa associated with RHO copy number variation;eLife;2024-04-25

2. A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia;Congenital Anomalies;2024-04-18

3. Disease modeling and pharmacological rescue of autosomal dominant Retinitis Pigmentosa associated with RHO copy number variation;2024-04-11

4. Nontuberculous Mycobacteria, Mucociliary Clearance, and Bronchiectasis;Microorganisms;2024-03-27

5. Disease modeling and pharmacological rescue of autosomal dominant Retinitis Pigmentosa associated with RHO copy number variation;ELIFE;2023-10-23

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