Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Aliya Al Hosni"'
Publikováno v:
Clinical Case Reports, Vol 8, Iss 4, Pp 716-718 (2020)
Abstract This is a first case report of a patient with hypohidrotic ectodermal dysplasia from Oman, who was found to carry a mutation in the EDAR gene after candidate gene selection based on regions of homozygosity in his genome.
Externí odkaz:
https://doaj.org/article/a9928652f06d4c6a90cfd7743f00f78a
Autor:
Tariq Al Farsi, Khwater Ahmed, Jalila Alshekaili, Mahmood Al Kindi, Matthew Cook, Aliya Al-Hosni, Zainab Ansari, Iman Nasr, Nashat Al Sukaiti
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
BackgroundInborn errors of immunity (IEIs) are being recognized as an important cause of morbidity and mortality in communities with a high frequency of consanguinity, such as Oman, and thus recessively inherited conditions. Various monogenic causes
Externí odkaz:
https://doaj.org/article/f051cc516d824774b9afe35c6d56d18a
Autor:
Intisar Al Alawi, Maryam AlShehhi, Mohammed S Al Riyami, Naifain Al Kalbani, Aliya Al Hosni, Ashwaq Al Mimani, Issa Al Salmi, John A. Sayer
Publikováno v:
Oman Medical Journal.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::de4e05a081c8cd3a849ec59cfa8a719e
https://doi.org/10.5001/omj.2024.34
https://doi.org/10.5001/omj.2024.34
Publikováno v:
J Pediatr Genet
Here we reported on the genetic findings of a 9-year-old Omani boy with a rare inherited bone disorder. The patient's clinical features include dysmorphic facial features, short stature, and skeletal abnormalities. Exome sequence of the patient's deo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9696d45dd72193e59b8227068d02a204
https://doi.org/10.1055/s-0040-1714364
https://doi.org/10.1055/s-0040-1714364
Publikováno v:
J Pediatr Genet
Spondylo-ocular syndrome (SOS) is a rare autosomal recessive disorder and affects primarily ocular and spinal tissues. This case report presented an Omani child with a novel homozygous variant, c.2070 G > A (p.Trp690Ter) in XYLT2 associated with SOS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9931ce5600a6581e13f13f140be53d01
https://doi.org/10.1055/s-0040-1715113
https://doi.org/10.1055/s-0040-1715113
Publikováno v:
Clinical Case Reports
Clinical Case Reports, Vol 8, Iss 4, Pp 716-718 (2020)
Clinical Case Reports, Vol 8, Iss 4, Pp 716-718 (2020)
This is a first case report of a patient with hypohidrotic ectodermal dysplasia from Oman, who was found to carry a mutation in the EDAR gene after candidate gene selection based on regions of homozygosity in his genome.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccdb73b89a3137393e6bbb33cf992af8
http://europepmc.org/articles/PMC7141724
http://europepmc.org/articles/PMC7141724
Publikováno v:
Journal of Biochemical and Clinical Genetics. :93-97
Background: This report provides a molecular cytogenetic characterization of an Omani girl with 19p13.12 microdeletion and compares her clinical features of global developmental delay (GDD) and multiple congenital anomalies with the gene mutations an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::472c1d25f96a33d222b5f2a0d6ced73d
https://doi.org/10.24911/jbcgenetics/183-1532358706
https://doi.org/10.24911/jbcgenetics/183-1532358706