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...

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التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Tooze, RS, Calpena, E, Twigg, SRF, D'Arco, F, Wakeling, EL, Wilkie, AOM
التنسيق: Journal article
اللغة:English
منشور في: BMJ Publishing Group 2022