The NOTCH2 gene is a key player in human health and disease. It provides important information for scientific research, diagnostics, and treatment of various conditions. NOTCH2 is part of the NOTCH gene family, which plays a crucial role in cell…
The PHOX2B gene is a genetic material that plays a crucial role in the development and function of the nervous system, especially in the central and peripheral nervous systems. Changes or variants in this gene have been identified in individuals…
The CATSPER1 gene, also known as Cation Channel Sperm Associated 1, is a gene that is primarily involved in male infertility. It is listed in various databases and catalogs, including OMIM, PubMed, and the CATSPER1-related articles database. The gene is…
Gyrate atrophy of the choroid and retina is a rare genetic condition that causes progressive degeneration of the retina and the choroid, the tissue layer that provides blood supply to the retina. This condition is inherited in an autosomal recessive…
Genetic conditions are a wide range of disorders that are caused by abnormalities in an individual’s DNA. These conditions can affect various aspects of a person’s health, including their physical appearance, development, and overall well-being. In this article, we will…
Hartsfield Syndrome, also known as Hartsfield-Bixler-Demyer syndrome, is a rare genetic disorder that is associated with a variety of physical and developmental abnormalities. It is characterized by craniofacial anomalies, including cleft palate and facial dysmorphism, as well as hypogonadism and…
The FGF10 gene is a gene that encodes fibroblast growth factor 10, a protein involved in the growth and development of various tissues and organs in the human body. It is located on chromosome 5q31.3 and is classified as a…
The urinary system consists of two kidneys, two ureters, the bladder, and the urethra. It is responsible for filtering waste products from the blood and producing urine. Congenital anomalies of kidney and urinary tract (CAKUT) are abnormalities in the development…
The FERMT1 gene, also known as Kindlin-1, is a gene that plays a crucial role in various biological processes. It has been extensively studied and documented in scientific literature, with numerous articles and references available on databases such as PubMed…
Benign recurrent intrahepatic cholestasis, also known as BRIC, is a type of autosomal recessive cholestasis that affects the liver. This condition is rare and occurs in both children and adults. The frequency of BRIC is not known exactly, but it…