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Topic Review
Mucopolysaccharidosis Type II
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals.
  • 714
  • 23 Dec 2020
Topic Review
Opitz G/BBB Syndrome
Opitz G/BBB syndrome is a genetic condition that causes several abnormalities along the midline of the body. "G/BBB" represents the first letters of the last names of the families first diagnosed with this disorder and "Opitz" is the last name of the doctor who first described the signs and symptoms. There are two forms of Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome and autosomal dominant Opitz G/BBB syndrome. The two forms are distinguished by their genetic causes and patterns of inheritance. The signs and symptoms of the two forms are generally the same.
  • 714
  • 24 Dec 2020
Topic Review
Lattice Corneal Dystrophy Type II
Lattice corneal dystrophy type II is characterized by an accumulation of protein clumps called amyloid deposits in tissues throughout the body.
  • 714
  • 23 Dec 2020
Topic Review
Noonan Syndrome with Multiple Lentigines
Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome) is a condition that affects many areas of the body. As the condition name suggests, Noonan syndrome with multiple lentigines is very similar to a condition called Noonan syndrome, and it can be difficult to tell the two disorders apart in early childhood. However, the features of these two conditions differ later in life. The characteristic features of Noonan syndrome with multiple lentigines include brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes (ocular hypertelorism), a sunken chest (pectus excavatum) or protruding chest (pectus carinatum), and short stature. These features vary, however, even among affected individuals in the same family. Not all individuals with Noonan syndrome with multiple lentigines have all the characteristic features of this condition.
  • 714
  • 24 Dec 2020
Topic Review
Nonsyndromic Aplasia Cutis Congenita
Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on the torso or limbs. In some cases, the bone and other tissues under the skin defect are also underdeveloped.
  • 714
  • 24 Dec 2020
Topic Review
Kawasaki Disease
Kawasaki disease is a sudden and time-limited (acute) illness that affects infants and young children.
  • 712
  • 23 Dec 2020
Topic Review
Legg-Calvé-Perthes Disease
Legg-Calvé-Perthes disease is a bone disorder that affects the hips. Usually, only one hip is involved, but in about 10 percent of cases, both hips are affected. Legg-Calvé-Perthes disease begins in childhood, typically between ages 4 and 8, and affects boys more frequently than girls.
  • 712
  • 23 Dec 2020
Topic Review
RBM8A Gene
RNA binding motif protein 8A
  • 712
  • 23 Dec 2020
Topic Review
Chanarin-Dorfman Syndrome
Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. The signs and symptoms vary greatly among individuals with Chanarin-Dorfman syndrome. Some people may have ichthyosis only, while others may have problems affecting many areas of the body.
  • 712
  • 24 Dec 2020
Topic Review
ZEB2 Gene
Zinc finger E-box binding homeobox 2
  • 712
  • 24 Dec 2020
Topic Review
COL11A2 Gene
collagen type XI alpha 2 chain
  • 712
  • 24 Dec 2020
Topic Review
SLC29A3 Gene
solute carrier family 29 member 3
  • 712
  • 24 Dec 2020
Topic Review
SLC3A1 Gene
solute carrier family 3 member 1
  • 712
  • 24 Dec 2020
Topic Review
FGFR1 Gene
Fibroblast growth factor receptor 1: The FGFR1 gene provides instructions for making a protein called fibroblast growth factor receptor 1. 
  • 712
  • 25 Dec 2020
Topic Review
COL7A1 Gene
collagen type VII alpha 1 chain
  • 712
  • 24 Dec 2020
Topic Review
TUBB4A Gene
Tubulin beta 4A class IVa.
  • 711
  • 23 Dec 2020
Topic Review
Methylmalonic Acidemia
Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly.
  • 711
  • 23 Dec 2020
Topic Review
LAMA2 Gene
Laminin subunit alpha 2
  • 711
  • 23 Dec 2020
Topic Review
Left Ventricular Noncompaction
Left ventricular noncompaction is a heart (cardiac) muscle disorder that occurs when the lower left chamber of the heart (left ventricle), which helps the heart pump blood, does not develop correctly.
  • 711
  • 23 Dec 2020
Topic Review
EXT1 Gene
Exostosin glycosyltransferase 1
  • 711
  • 24 Dec 2020
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