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Case report describes severe achondroplasia and developmental delay in a patient with a fgfr3 variant, suggesting a connection to skin conditions.
This case report describes a patient with a postzygotic FGFR3 variant leading to severe achondroplasia with developmental delay and acanthosis nigricans accompanied by both acanthosis nigricans and generalized epidermal nevus.
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Pei et al. (2025) studied this question.
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