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

Autor: Lima Cunha, D., Alakloby, O.M., Gruber, R., Kakar, N., Ahmad, J., Alawbathani, S., Plank, R., Eckl, K., Krabichler, B., Altmüller, J., Nürnberg, P., Zschocke, J., Borck, G., Schmuth, M., Alabdulkareem, A.S., Abdulaziz Alnutaifi, K., Hennies, H.C.

BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been ident

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=mdc______med::615805fb4d0705fa0daf65523d4fa8fd
http://edoc.mdc-berlin.de/20559/7/20559suppl.zip

Occasional acne; an acne variant

Autor: Melibary YT, Alkeraye S, Alnutaifi KA, Melibary NT, Alsuwaidi MK, Algzlan HI

Publikováno v: Clinical, Cosmetic and Investigational Dermatology, Vol Volume 12, Pp 219-222 (2019)

Yaser Taha Melibary,1 Salim Alkeraye,2 Kholood Abdulaziz Alnutaifi,3 Nouran Taha Melibary,4 Mariam Khalfan Alsuwaidi,5 Haitham Ibrheem Algzlan61Private Cinic for Dermatology, Allergy and Aesthetic Medicine, Coesfeld, Muensterland, Germany; 2Departmen

Externí odkaz: https://doaj.org/article/6490d96ad26944e3b1f0b9d10ab9cbfd

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

Autor: Lima Cunha D; Department of Biological and Geographical Sciences, University of Huddersfield, Huddersfield, UK.; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Alakloby OM; Department of Dermatology, College of Medicine, Imam Abdulrahman Bin Faisal University (formerly University of Dammam), Dammam, Saudi Arabia., Gruber R; Department of Dermatology, Medical University of Innsbruck, Innsbruck, Austria., Kakar N; Institute of Human Genetics, University of Ulm, Ulm, Germany.; Department of Biotechnology, BUITEMS, Quetta, Pakistan., Ahmad J; Department of Biotechnology, BUITEMS, Quetta, Pakistan., Alawbathani S; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Plank R; Department of Biological and Geographical Sciences, University of Huddersfield, Huddersfield, UK.; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Eckl K; Department of Biological and Geographical Sciences, University of Huddersfield, Huddersfield, UK.; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.; Department of Biology, Edge Hill University, Ormskirk, UK., Krabichler B; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Nürnberg P; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; CECAD Cluster of Excellence on Cellular Stress Responses in Aging-associated Diseases, University of Cologne, Cologne, Germany., Zschocke J; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Borck G; Institute of Human Genetics, University of Ulm, Ulm, Germany., Schmuth M; Department of Dermatology, Medical University of Innsbruck, Innsbruck, Austria., Alabdulkareem AS; King Saud Medical City, Riyadh, Saudi Arabia., Abdulaziz Alnutaifi K; Department of Dermatology, College of Medicine, Imam Abdulrahman Bin Faisal University (formerly University of Dammam), Dammam, Saudi Arabia., Hennies HC; Department of Biological and Geographical Sciences, University of Huddersfield, Huddersfield, UK.; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; CECAD Cluster of Excellence on Cellular Stress Responses in Aging-associated Diseases, University of Cologne, Cologne, Germany.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Mar; Vol. 7 (3), pp. e539. Date of Electronic Publication: 2019 Jan 01.