Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia-Reference-Cited by-同舟云学术

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia

Published:2019-12-05 Issue:3 Volume:97 Page:509-515
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Fassad Mahmoud R.¹²^ORCID,Shoman Walaa I.³,Morsy Heba²,Patel Mitali P.¹,Radwan Nesrine⁴,Jenkins Lucy⁵,Cullup Thomas⁵,Fouda Eman⁴,Mitchison Hannah M.¹^ORCID,Fasseeh Nader³

Affiliation:

1. Genetics and Genomic Medicine DepartmentUniversity College London, UCL Great Ormond Street Institute of Child Health London UK

2. Department of Human Genetics, Medical Research InstituteAlexandria University Alexandria Egypt

3. Department of Pediatrics, Faculty of MedicineAlexandria University Children's Hospital Egypt

4. Department of Pediatrics, Faculty of MedicineAin Shams University Cairo Egypt

5. Regional Molecular Genetics LaboratoryGreat Ormond Street Hospital for Children NHS Foundation Trust London UK

Funder

Action Medical Research

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13661

Reference28 articles.

1. Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

2. Diagnosis and management of primary ciliary dyskinesia

3. C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia

4. Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

5. Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance

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