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Topic Review
Dystonia 16
Dystonia 16 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 16 can appear at any age from infancy through adulthood, although it most often begins in childhood.
  • 847
  • 25 Dec 2020
Topic Review
Guillain-Barré Syndrome
Guillain-Barré syndrome is an autoimmune disorder that affects the nerves.
  • 846
  • 23 Dec 2020
Topic Review
LRP5 Gene
LDL receptor related protein 5
  • 846
  • 23 Dec 2020
Topic Review
PTEN Gene
phosphatase and tensin homolog
  • 846
  • 23 Dec 2020
Topic Review
TBX1 Gene
T-box 1: The TBX1 gene provides instructions for making a protein called T-box 1. Genes in the T-box family play important roles in the formation of tissues and organs during embryonic development. 
  • 846
  • 24 Dec 2020
Topic Review
Glaucoma Heritability
Glaucoma, a leading cause of irreversible blindness globally, is a degenerative optic neuropathy characterized by progressive visual field defects corresponding to retinal ganglion cell and retinal nerve fiber layer (RNFL) degeneration.
  • 846
  • 06 Aug 2021
Topic Review
TINF2 Gene
TERF1 interacting nuclear factor 2 (TINF2): The TINF2 gene provides instructions for making part of the shelterin protein complex.
  • 846
  • 25 Dec 2020
Topic Review
Miller Syndrome
Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity of this disorder varies among affected individuals.
  • 845
  • 23 Dec 2020
Topic Review
Citrullinemia
Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Two types of citrullinemia have been described; they have different signs and symptoms and are caused by mutations in different genes.
  • 845
  • 24 Dec 2020
Topic Review
Donohue Syndrome
Donohue syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. Severe insulin resistance leads to problems with regulating blood sugar levels and affects the development and function of organs and tissues throughout the body.
  • 845
  • 24 Dec 2020
Topic Review
Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40 and slowly worsens over time.
  • 845
  • 24 Dec 2020
Topic Review
Myoclonus-Dystonia
Myoclonus-dystonia is a movement disorder that typically affects the neck, torso, and arms. Individuals with this condition experience quick, involuntary muscle jerks or twitches (myoclonus). About half of individuals with myoclonus-dystonia develop dystonia, which is involuntary tensing of various muscles that causes unusual positioning. In myoclonus-dystonia, dystonia often affects one or both hands, causing writer's cramp, or the neck, causing the head to turn (torticollis).
  • 844
  • 23 Dec 2020
Topic Review
Weissenbacher-Zweymüller Syndrome
Infants born with Weissenbacher-Zweymüller syndrome are smaller than average because the bones in their arms and legs are unusually short. The thigh and upper arm bones are wider than usual at the ends (described as dumbbell-shaped), and the bones of the spine (vertebrae) may also be abnormally shaped. High-frequency hearing loss occurs in some cases. Distinctive facial features include wide-set protruding eyes, a small and upturned nose with a flat bridge, and a small lower jaw. Some affected infants are born with an opening in the roof of the mouth (a cleft palate). Most people with Weissenbacher-Zweymüller syndrome experience significant "catch-up" growth in the bones of the arms and legs during childhood. As a result, adults with this condition are not unusually short. However, affected adults still have other signs and symptoms of Weissenbacher-Zweymüller syndrome, including distinctive facial features and hearing loss.
  • 844
  • 23 Dec 2020
Topic Review
Lymphedema-Distichiasis Syndrome
Lymphedema-distichiasis syndrome is a condition that affects the normal function of the lymphatic system, which is a part of the circulatory and immune systems. The lymphatic system produces and transports fluids and immune cells throughout the body.
  • 844
  • 24 Dec 2020
Topic Review
PKP2 Gene
plakophilin 2
  • 844
  • 25 Dec 2020
Topic Review
Brain-Lung-Thyroid Syndrome
Brain-lung-thyroid syndrome is a group of conditions that affect the brain, lungs, and thyroid gland (a butterfly-shaped gland in the lower neck). Brain-lung-thyroid syndrome historically included problems with all three organs, although the designation now encompasses a combination of brain, lung, and thyroid problems. About 50 percent of affected individuals have problems with all three organs, about 30 percent have brain and thyroid problems, and about 10 percent have brain and lung problems. The brain alone is affected in 10 to 20 percent of people with the condition. Such cases are sometimes called isolated benign hereditary chorea.
  • 844
  • 24 Dec 2020
Topic Review
Trisomy 18
Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body.
  • 843
  • 23 Dec 2020
Topic Review
Primary Sclerosing Cholangitis
Primary sclerosing cholangitis is a condition that affects the bile ducts. These ducts carry bile (a fluid that helps to digest fats) from the liver, where bile is produced, to the gallbladder, where it is stored, and to the small intestine, where it aids in digestion. Primary sclerosing cholangitis occurs because of inflammation in the bile ducts (cholangitis) that leads to scarring (sclerosis) and narrowing of the ducts. As a result, bile cannot be released to the gallbladder and small intestine, and it builds up in the liver.
  • 843
  • 24 Dec 2020
Topic Review
Floating-Harbor Syndrome
Floating-Harbor syndrome is a disorder involving short stature, slowing of the mineralization of the bones (delayed bone age), delayed speech development, and characteristic facial features. The condition is named for the hospitals where it was first described, the Boston Floating Hospital and Harbor General Hospital in Torrance, California.
  • 843
  • 25 Dec 2020
Topic Review
NcRNAs in Cardiac Action Potential
microRNAs represent the most studied type of small ncRNAs and it has been demonstrated that miRNAs play essential roles in multiple biological contexts, including normal development and diseases. Cardiac arrhythmias are prevalent among humans across all age ranges, affecting millions of people worldwide. While cardiac arrhythmias vary widely in their clinical presentation, they possess shared complex electrophysiologic properties at cellular level that have not been fully studied. 
  • 843
  • 15 Sep 2021
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