The connection between Neuroblastoma Amplified Sequence Gene (NBAS) and the Short Stature-Optic-Atrophy-Pelger-Huet Anomaly Syndrome (SOPH) literature review

Thong, JY, Halim, A, Li, Z and Halim, M ORCID: https://orcid.org/0000-0001-6328-8265 2021, 'The connection between Neuroblastoma Amplified Sequence Gene (NBAS) and the Short Stature-Optic-Atrophy-Pelger-Huet Anomaly Syndrome (SOPH) literature review' , International Journal of Innovative Science and Research Technology, 6 (2) , pp. 52-61.

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Abstract

Background. Clinical and natural heterogeneity is the main characteristic of inherited multisystem conditions with severe growth restriction. Nonetheless, the source of the originof these diseases are not completely investigated. Afore-mentioned afflictions are widespread among the population of Yakuts, located in the Republic of Sakha, which belongs to Russian Federation. Among the Yakuts, these conditions remarked by acute postnatal development hindrance, brachydactyly, optic atrophy (impairment of visual acuteness and color reflection), Pelger-Huet incongruity of WBCs and craniofacial dysmorphism but with average level of intelligence (1). Other features encompass chronic liver failure, underdeveloped cheekbones, loose skin, skeletal deformities and diminished tissue turgor (2). Purpose of Study. The overall objective of this research paper is to locate the gene that causes SOPH disorder. Methods The study uses secondary data from scientific journals published in authoritative databases, PubMed indexed in this case. The journal articles provide scientific investigations and information about the SOPH disease, NBAS gene and other relevant themes. A population sample of 129 individuals from five published research journals was considered. Results All reviewed researches were coherent in connecting SOPH syndrome with NBAS gene mutations.

Item Type: Article
Schools: Schools > School of Environment and Life Sciences
Journal or Publication Title: International Journal of Innovative Science and Research Technology
Publisher: IJISRT Digital Library
ISSN: 2456-2165
Related URLs:
Depositing User: Michael Halim
Date Deposited: 23 Apr 2021 07:20
Last Modified: 23 Apr 2021 08:01
URI: http://usir.salford.ac.uk/id/eprint/60104

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