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March 3, 2026
Open Access
A 12,000-Year-Old Case of NPR2 -Related Acromesomelic Dysplasia
DF
Daniel M. Fernandes
AL
Alejandro Llanos-Lizcano
FB
Florian Brück
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Key Points
Acromesomelic dysplasia is confirmed in an individual dating back 12,000 years, illustrating the long-standing presence of this condition.
Key evidence includes genetic analysis identifying a mutation in the NPR2 gene, integral to skeletal development.
This observational analysis examines historical remains, focusing on genetic and phenotypic characteristics of the condition.
The findings highlight the potential for ancient DNA to provide insights into the evolution of genetic disorders.
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Fernandes et al. (Wed,) studied this question.
synapsesocial.com/papers/69a75bf8c6e9836116a243f5
https://doi.org/https://doi.org/10.1056/nejmc2513616
A 12,000-Year-Old Case of NPR2 -Related Acromesomelic Dysplasia | Synapse