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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 ...
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 ...
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.
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.
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.
Urbach–Wiethe disease; Urban–Rogers–Meyer syndrome; Urban–Schosser–Spohn syndrome; Urea cycle enzymopathies; Uremia; Urethral obstruction sequence; Uridine monophosphate synthetase deficiency; Urinary calculi; Urinary tract neoplasm; Urioste–Martinez–Frias syndrome; Urocanase deficiency; Urogenital adysplasia; Urophathy distal ...
A genetic disorder is a health problem caused by one or more abnormalities in the genome.It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality.
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 ...