Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function
<p><strong>Introduction</strong> SPRY1 encodes protein sprouty homolog 1 (Spry-1), a negative regulator of receptor tyrosine kinase signalling. Null mutant mice display kidney/urinary tract abnormalities and altered size of the skull; complete loss-of-function of Spry-1 in humans h...
المؤلفون الرئيسيون: | , , , , , |
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التنسيق: | Journal article |
اللغة: | English |
منشور في: |
BMJ Publishing Group
2022
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