Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan

Author:

Lima Cunha Dulce123ORCID,Alakloby Omar Mohammed4,Gruber Robert5,Kakar Naseebullah67,Ahmad Jamil7,Alawbathani Salem3,Plank Roswitha12,Eckl Katja128,Krabichler Birgit2,Altmüller Janine3,Nürnberg Peter39,Zschocke Johannes2,Borck Guntram6,Schmuth Matthias5,Alabdulkareem Adnan S.10,Abdulaziz Alnutaifi Kholood4,Hennies Hans Christian1239ORCID

Affiliation:

1. Department of Biological and Geographical Sciences University of Huddersfield Huddersfield UK

2. Division of Human Genetics Medical University of Innsbruck Innsbruck Austria

3. Cologne Center for Genomics University of Cologne Cologne Germany

4. Department of Dermatology, College of Medicine Imam Abdulrahman Bin Faisal University (formerly University of Dammam) Dammam Saudi Arabia

5. Department of Dermatology Medical University of Innsbruck Innsbruck Austria

6. Institute of Human Genetics University of Ulm Ulm Germany

7. Department of Biotechnology BUITEMS Quetta Pakistan

8. Department of Biology Edge Hill University Ormskirk UK

9. CECAD Cluster of Excellence on Cellular Stress Responses in Aging‐associated Diseases University of Cologne Cologne Germany

10. King Saud Medical City Riyadh Saudi Arabia

Funder

Bundesministerium für Bildung und Forschung

Oesterreichische Nationalbank

Austrian Science Fund

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

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