ACAN Pathogenic Variant as a Cause of Short Stature
Pathogenic variants of the aggrecan (ACAN) gene have been associated with a wide spectrum of growth modifications ranging from idiopathic short stature to severe skeletal dysplasia. We reported a case of an 8-year-old male observed in a pediatric endocrinology consultation for short stature (-3.46 s...
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2023-01-01T00:00:00Z.
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