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A child affected by an inherited genetic defect leading to diminished proliferation of chondrocytes in the growth plates of long bones.
Which of the following proteins or biochemical pathways is altered in this condition?
A.Cell signalling
B.Degradation of mucopolysaccharides
C.Fibrillin synthesis
D.Transcription factors
E.Type 1 collagen
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wat seems to be the explaination here, is this a case of achondroplasia?
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The correct answer is A.This child shows the typical features of Achondroplasia.It is an autosomal dominant disorder due to point mutations of the gene coding for the fibroblast growth factor FGF-receptor 3.Such mutations result in constant activation of FGF-R3 which inhibits chondrocyte proliferation.The histopathologic manifestations include reduced size,disorganization and premature sealing of growth plates leading to shortened limbs in the affected child while the chest is of approximately normal length.The head is enlarged with a bulging forehead.
Thanks to you all.
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precious, could you please tell me from where are these qs from
are they from nbme, if yes then what form?
thankyou
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Hey juliaroberts,got the questions from some friends.They are not from NBME.CHEERS.
