A first case report of hypohidrotic ectodermal dysplasia from Oman

Autor: Musallam Al‐Araimi, Nishath Hamza, Aliya Al Hosni, Hiba Al Mazrooey

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

Spondylo-ocular Syndrome Due to a Novel Variant in XYLT2 in an Omani Patient

Autor: Nishath Hamza, Musallam Al-Araimi, Aliya Al-Hosni, Ashwaq Al Maimani

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

A first case report of hypohidrotic ectodermal dysplasia from Oman

Autor: Nishath Hamza, Hiba Al Mazrooey, Aliya Al Hosni, Musallam Al-Araimi

Publikováno v: Clinical Case Reports
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

Episodic ataxia-type 5 in Omani patient with chronic migraine: A case report

Autor: Musallam Al Araimi, Abdullah Al Salti, Ahmed Sameer Nadeem, Iman Redha

Publikováno v: Neurology and Neuroscience Reports. 3

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::db48769232fabb1c227aebfac7dc7c9b
https://doi.org/10.15761/nnr.1000124

Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

Autor: Eamonn Sheridan, Chris F. Inglehearn, Murugan Saktivel, Phillis Lakeman, Rohit Shetty, Anandula Venkataramana, Manir Ali, Sabrina Carrella, Bishwanath Pal, Ian M. Carr, Alex W. Hewitt, James A. Poulter, Maria M. van Genderen, Musallam Al-Araimi, Govindasamy Kumaramanickavel, Vedam L. Ramprasad, Mike Shires, David A. Mackey, David A. Parry, Carmel Toomes, Kamron N. Khan, Andrew R. Webster, Panagiotis I. Sergouniotis, Anthony T. Moore, Sandro Banfi, Moin Mohamed, Alex Tai Loong Tan, Ivan Conte, John Bradbury

Publikováno v: American journal of human genetics, 93(6), 1143-1150. Cell Press
Poulter, J A, Al-Araimi, M, Conte, I, van Genderen, M M, Sheridan, E, Carr, I M, Parry, D A, Shires, M, Carrella, S, Bradbury, J, Khan, K, Lakeman, P, Sergouniotis, P I, Webster, A R, Moore, A T, Pal, B, Mohamed, M D, Venkataramana, A, Ramprasad, V, Shetty, R, Saktivel, M, Kumaramanickavel, G, Tan, A, Mackey, D A, Hewitt, A W, Banfi, S, Ali, M, Inglehearn, C F & Toomes, C 2013, ' Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism ', American journal of human genetics, vol. 93, no. 6, pp. 1143-1150 . https://doi.org/10.1016/j.ajhg.2013.11.002
American journal of human genetics, vol 93, iss 6

Foveal hypoplasia and optic nerve misrouting are developmental defects of the visual pathway and only co-occur in connection with albinism; to date, they have only been associated with defects in the melanin-biosynthesis pathway. Here, we report that

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4adbd3ab2052210013ccbaede5c6b0c
https://doi.org/10.1016/j.ajhg.2013.11.002