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Marshall syndrome was first described in 1971 by Dr. John Marshall and his colleagues. It is a rare genetic disorder characterized by various features, including distinctive facial traits, skeletal abnormalities, and hearing loss. The syndrome is caused by mutations in the B4GALT7 gene, which affects glycosylation processes in the body.
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What percentage of the population have Marshall syndrome?
Marshall syndrome is a rare genetic disorder, with a prevalence that is not well documented in the general population. It is estimated to occur in fewer than 1 in 100,000 individuals. This means that less than 0.001% of the population is affected by Marshall syndrome.
When was Klinefelter's syndrome discovered?
Klinefelter's syndrome was first identified in 1942 by Harry Klinefelter and his colleagues. They described a group of men with underdeveloped testes and other characteristic features that became known as Klinefelter's syndrome.
Who discovered helicobacter pylori?
Barry Marshall and Robin Warren were the scientists who discovered Helicobacter pylori in 1982. Their groundbreaking discovery challenged the existing belief that stomach ulcers were primarily caused by stress and spicy foods, revolutionizing the understanding and treatment of gastritis and peptic ulcers.
When was turner syndrome discovered?
Turner's syndrome was first described by Dr. Henry Turner in 1938, but it was not until 1960 that the chromosomal abnormality was discovered. ...
Who discovered waardenburg syndrome?
Pietrus sp? Waardenburg discovered Waardenburg syndrome in the Netherlands. It was the early 50s. I think it was 1951. He was a Dutch ophthmologist (eye doctor MD) who discovered many school children with different colored eyes (heterochromatica ) were deaf. WS is a leading cause of deafness.
Where James Marshall discovered gold in California?
James Marshall discovered gold in Sacramento
Was aase syndrome discovered in 1985?
Aase syndrome
What percentage of the population have Marshall syndrome?
Marshall syndrome is a rare genetic disorder, with a prevalence that is not well documented in the general population. It is estimated to occur in fewer than 1 in 100,000 individuals. This means that less than 0.001% of the population is affected by Marshall syndrome.
How was the genetic disorder the Marshall syndrome named?
Marshall syndrome was named after Dr. John Marshall, who first described the condition in the medical literature. The syndrome is characterized by features such as skeletal abnormalities, facial dysmorphism, and hearing loss. Naming it after Dr. Marshall honors his contributions to understanding and identifying the disorder, which is a form of connective tissue disorder.
Who discovered Wolfram syndrome?
Wolfram syndrome was first discovered by DJ Wolfram who was a US phycisian at the Mayo clinic
Who discovered moebius syndrome?
Paul Moebius, a neurologist who first described the syndrome in 1888.
Who discovered Jacobsen Syndrome?
Jacob's Syndrome, or XYY Syndrome was first discovered by cytogeneticists Joe Hin Tjio and Albert Levan.
What is the history of Asperger's Syndrome?
Asperger's Syndrome was discovered by Hans Asperger in 1944.
When was the Down Syndrome recognized?
The cause of Down Syndrome was discovered in 1958 by Jérôme Lejeune.
Who discovered Edwards' Syndrome?
John Edwards
Who discovered joubert syndrome?
Marie Joubert..
Who discovered prader willi syndrome?
It was discovered in 1863 by a Swiss Doctor named Labhart
