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A Comprehensive Review of Chromosome 7, Partial Monosomy 7p Syndrome

Partial monosomy syndrome of chromosome 7p is a rare chromosomal disorder characterized by the deletion (monosomy) of part of the short arm (p) of chromosome number 7 (7p). Associ…

The Role of Genetic Mutations on Genes PAX2 & PAX6 in Cyclopia Syndrome

Cyclopia syndrome typically coexists with holoprosencephaly. This ocular lesion may present as complete ocular fusion in a single orbit or as two eyes in a single orbit. Eye defec…

The Role of Genetic Mutations in Gene MTHFR in Anencephaly Syndrome

Anencephaly syndrome is a genetic disorder that prevents normal growth of the brain and skull bones. This condition can break down the tissues of the nervous system. As a result, …

Assessment Genetic Mutations in Genes ACE, AGT, AGTR1, REN in Indicate Twin-to-Twin Transfusion Syndrome

TTT syndrome, also known as kidney dysgenesis, is a severe and severe renal disorder characterized by abnormal kidney development before birth. Specifically, renal structures calle…

Study of Genetic Mutation CSF1R and EPM2A Genes in Patients with Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Syndrome, Iran

In this study we have analyzed 100 people. 40 patients and 60 control group had Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Syndrome. The gene CSF1R (…

Study of Genetics Mutations in HEXA Gene for Induced Tay-Sachs Disease in Human, Tabriz, Iran

Tay-Sachs disease is one of the few neurodegenerative diseases of known causes. It results from mutations of the HEXA gene encoding the alpha subunit of beta-hexosaminidase, produc…