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Achondroplasia was discovered in the year 1994 by a group of scientists led by Dr. John Wasmuth. According to findings, this type of dwarfism resulted from the mutation of the fibroblast growth factor receptor-3 gene, which is part of the human chromosome 4. Today it affects at least one in every 25,000 live births.
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Who was achondroplasia discovered by?
your mom and i in bed
Who discovered achondroplasia and when?
it was dr John Wasmuth in 1994
When was achondroplasia discovered?
In 1994 Dr. John Wasmuth and his colleagues discovered that a mutation of the fibroblast growth factor receptor-3 (FGFR3) gene on human chromosome 4 causes achondroplasia.
How is achondroplasia diagnosed?
whats the name of the test that diagnoses achondroplasia
How much is medicines or hospitals for people with achondroplasia?
There are no medications for achondroplasia
Do Ellie Simmonds parents have achondroplasia?
no Ellie Simmonds parents has not got achondroplasia
Is achondroplasia hereditary?
yes, achondroplasia is hereditary and if one of a parent has it you have 50% chance to inheriting it.
Is there a cure for achondroplasia?
No
Is anyone looking for a cure for achondroplasia?
Yes ,we are looking for a cure for achondroplasia. Please help! Amita
What is the heredity cause for achondroplasia?
Mutations in the FGFR3 gene are the cause for achondroplasia (short-limbed dwarfism).
How did dr john wasmuth discover achondroplasia?
Dr. John Wasmuth discovered achondroplasia in the early 20th century while studying skeletal dysplasias. He identified the condition through clinical observations of patients exhibiting disproportionate short stature and characteristic skeletal features. His research contributed to the understanding of the genetic basis of achondroplasia, linking it to a specific mutation in the FGFR3 gene. This foundational work helped establish the medical framework for diagnosing and studying the condition.
What is the name of the gene for Achondroplasia?
Achondroplasia is caused by a mutation of the fibroblast growth factor receptor 3 (FGFR3) gene.
