Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function.

Journal of medical genetics（2022）

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摘要

This is the first report of complete loss of Spry-1 function in humans, associated with abnormalities of the cranial sutures, inner ear, and kidneys.

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关键词

genetics,human genetics,musculoskeletal diseases

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