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Urbach–Wiethe disease is inherited in an autosomal recessive manner. Urbach–Wiethe disease is a very rare recessive genetic disorder, with approximately 400 reported cases since its discovery. [1] [2] [3] It was first officially reported in 1929 by Erich Urbach and Camillo Wiethe, [4] [5] although cases may be recognized dating back as ...
Hypochondrogenesis is a severe genetic disorder causing malformations of bone growth. [1] The condition is characterized by a short body and limbs and abnormal bone formation in the spine and pelvis.
Lipoid proteinosis, also known as Urbach–Wiethe disease This page was last edited on 29 December 2019, at 06:13 (UTC). Text is available under the Creative Commons ...
S.M., sometimes referred to as SM-046, is an American woman with a peculiar type of brain damage that physiologically reduces her ability to feel fear.First described by scientists in 1994, [1] she has had exclusive and complete bilateral amygdala destruction since late childhood as a consequence of Urbach–Wiethe disease.
The system for classifying collagenopathies is changing as researchers learn more about the genetic causes of these disorders. The clinical features of the type II and XI collagenopathies vary among the disorders, but there is considerable overlap.
This category contains diseases and medical conditions named for those who first discovered or described them. Pages in category "Diseases named after discoverers" The following 132 pages are in this category, out of 132 total.
Urbach–Wiethe disease This page was last edited on 15 August 2024, at 19:06 (UTC). Text is available under the Creative Commons Attribution-ShareAlike 4.0 ...
Kniest dysplasia is a rare form of dwarfism caused by a mutation in the COL2A1 gene on chromosome 12. [1] The COL2A1 gene is responsible for producing type II collagen.The mutation of COL2A1 gene leads to abnormal skeletal growth and problems with hearing and vision.