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Café au lait spot characteristic of NF1 Diagnostic criteria of neurofibromatosis type I, requiring at least 2 of the mentioned items. [6]The following is a list of conditions and complications associated with NF-1, and, where available, age range of onset and progressive development, occurrence percentage of NF-1 population, method of earliest diagnosis, and treatments and related medical ...
With multi-focal disease 60% have a chronic course, 30% achieve remission and mortality is up to 10%. [48] A full recovery can be expected for people who seek treatment and do not have more lesions at 12 and 24 months. However, 50% of children under 2 with disseminated Langerhans cell histiocytosis die of the disease.
The histomorphological appearance of ballooning degeneration is not pathognomonic for steatohepatitis, but usage of the term is generally confined to the condition, i.e. in the context of other histopathological findings the label ballooning degeneration is not used for cell death with cytoplasmic clearing and cell swelling.
In genetics, trinucleotide repeat disorders, a subset of microsatellite expansion diseases (also known as repeat expansion disorders), are a set of over 30 genetic disorders caused by trinucleotide repeat expansion, a kind of mutation in which repeats of three nucleotides (trinucleotide repeats) increase in copy numbers until they cross a threshold above which they cause developmental ...
X chromosome. The factor IX gene is located on the X chromosome (Xq27.1-q27.2). It is an X-linked recessive trait, which explains why males are affected in greater numbers. [9] [10] A change in the F9 gene, which makes blood clotting factor IX (9), causes haemophilia B. [11]
Mycobacterium leprae (also known as the leprosy bacillus or Hansen's bacillus) is one [a] of the two species of bacteria that cause Hansen's disease (leprosy), [1] a chronic but curable infectious disease that damages the peripheral nerves and targets the skin, eyes, nose, and muscles.
Disease gene identification is a process by which scientists identify the mutant genotypes responsible for an inherited genetic disorder. Mutations in these genes can include single nucleotide substitutions, single nucleotide additions/deletions, deletion of the entire gene, and other genetic abnormalities.
X-linked recessive inheritance. X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation (see zygosity).