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Topic Review
Mannose-Binding Lectin Deficiency
Mannose-binding lectin deficiency is a condition that affects the immune system. People with this condition have low levels (deficiency) of an immune system protein called mannose-binding lectin in their blood. Whether this deficiency makes affected individuals prone to recurrent infections is not clear.
  • 960
  • 23 Dec 2020
Topic Review
Gitelman Syndrome
Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.
  • 960
  • 23 Dec 2020
Topic Review
Infantile Neuroaxonal Dystrophy
Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous system.
  • 960
  • 23 Dec 2020
Topic Review
Trichorhinophalangeal Syndrome Type I
Trichorhinophalangeal syndrome type I (TRPS I) is a condition that causes bone and joint malformations; distinctive facial features; and abnormalities of the skin, hair, teeth, sweat glands, and nails.
  • 960
  • 23 Dec 2020
Topic Review
Central Core Disease
Central core disease is a disorder that affects muscles used for movement (skeletal muscles). This condition causes muscle weakness that ranges from barely noticeable to very severe. The severity of muscle weakness may differ even among affected members of the same family.
  • 960
  • 24 Dec 2020
Topic Review
APOA1 Gene
apolipoprotein A1. The APOA1 gene provides instructions for making a protein called apolipoprotein A-I (apoA-I). 
  • 960
  • 24 Dec 2020
Topic Review
ABCA4 Gene
ATP binding cassette subfamily A member 4
  • 960
  • 24 Dec 2020
Topic Review
CHARGE Syndrome
CHARGE syndrome is a disorder that affects many areas of the body. CHARGE is an abbreviation for several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities. The pattern of malformations varies among individuals with this disorder, and the multiple health problems can be life-threatening in infancy. Affected individuals usually have several major characteristics or a combination of major and minor characteristics.
  • 959
  • 24 Dec 2020
Topic Review
Wolfram Syndrome
Wolfram syndrome is a condition that affects many of the body's systems.
  • 959
  • 24 Dec 2020
Topic Review
Severe Congenital Neutropenia
Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections.
  • 959
  • 25 Dec 2020
Topic Review
Genome/Gene Editing
Theoretically, a DNA sequence-specific recognition protein that can distinguish a DNA sequence equal to or more than 16 bp could be unique to mammalian genomes. Long-sequence-specific nucleases, such as naturally occurring Homing Endonucleases and artificially engineered ZFN, TALEN, and Cas9-sgRNA, have been developed and widely applied in genome editing.
  • 959
  • 28 Sep 2021
Topic Review
Spondylocarpotarsal Synostosis Syndrome
Spondylocarpotarsal synostosis syndrome is a disorder that affects the development of bones throughout the body. Newborns with this disorder are of approximately normal length, but impaired growth of the torso results in short stature over time. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). The vertebral abnormalities may result in an abnormally curved lower back (lordosis) and a spine that curves to the side (scoliosis).  
  • 958
  • 23 Dec 2020
Topic Review
Greenberg Dysplasia
Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth.
  • 958
  • 23 Dec 2020
Topic Review
Pseudoachondroplasia
Pseudoachondroplasia is an inherited disorder of bone growth.
  • 958
  • 24 Dec 2020
Topic Review
BRAF
B-Raf proto-oncogene, serine/threonine kinase
  • 958
  • 24 Dec 2020
Topic Review
Chloroplast DNA Barcodes
DNA barcodes are standardized sequences, ideally unique, coding or non-coding, either from the genome of the organism or from its organelles, that are used to identify/classify an organismal group; in short, the method includes amplification of the DNA barcode, sequencing and comparison with a reference database containing the relevant sequences from different species. In plants, the use a universal DNA barcode, such as COI, which is used in animals, has not been achieved so far. 
  • 958
  • 19 Feb 2024
Topic Review
Achondrogenesis
Achondrogenesis is a group of severe disorders that affect cartilage and bone development. These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of serious health problems, infants with achondrogenesis usually die before birth, are stillborn, or die soon after birth from respiratory failure. However, some infants have lived for a short time with intensive medical support.
  • 957
  • 23 Dec 2020
Topic Review
Cystinosis
Cystinosis is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) within cells. Excess cystine damages cells and often forms crystals that can build up and cause problems in many organs and tissues. The kidneys and eyes are especially vulnerable to damage; the muscles, thyroid, pancreas, and testes may also be affected.
  • 957
  • 24 Dec 2020
Topic Review
Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine dehydrogenase deficiency is a disorder characterized by a wide range of severity, with neurological problems in some individuals and no signs or symptoms in others.
  • 957
  • 24 Dec 2020
Topic Review
GALT Gene
Galactose-1-phosphate uridylyltransferase
  • 957
  • 25 Dec 2020
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