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slc26a2 gene mutation
What Conditions are Associated with SLC26A2 Gene Mutations?
Mutations in the SLC26A2 gene are linked to a group of disorders known as
skeletal dysplasias
, including
diastrophic dysplasia
,
achondrogenesis type 1B
, and
atelosteogenesis type 2
. These conditions are characterized by abnormal bone and cartilage development, leading to short stature, joint deformities, and other skeletal abnormalities.
Frequently asked queries:
What is the SLC26A2 Gene?
What Conditions are Associated with SLC26A2 Gene Mutations?
How are SLC26A2 Gene Mutations Inherited?
What are the Symptoms of SLC26A2 Gene Mutation Disorders?
What is the Prognosis for Children with SLC26A2 Gene Mutations?
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