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

INTRODUCTION: 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 has not been reported. METHODS: Analys...

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Detalles Bibliográficos
Autores principales: Tooze, Rebecca S, Calpena, Eduardo, Twigg, Stephen R F, D’Arco, Felice, Wakeling, Emma L, Wilkie, Andrew O M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Developmental Defects
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10359576/
https://www.ncbi.nlm.nih.gov/pubmed/36543535
http://dx.doi.org/10.1136/jmg-2022-108946

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10359576/
https://www.ncbi.nlm.nih.gov/pubmed/36543535
http://dx.doi.org/10.1136/jmg-2022-108946

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