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...
Main Authors: | Tooze, RS, Calpena, E, Twigg, SRF, D'Arco, F, Wakeling, EL, Wilkie, AOM |
---|---|
Format: | Journal article |
Language: | English |
Published: |
BMJ Publishing Group
2022
|
Similar Items
-
Review of recurrently mutated genes in craniosynostosis supports expansion of diagnostic gene panels
by: Tooze, RS, et al.
Published: (2023) -
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
by: Hyder, Z, et al.
Published: (2021) -
Development of Erf-mediated craniosynostosis and pharmacological amelioration
by: Vogiatzi, A, et al.
Published: (2023) -
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance
by: Tooze, RS, et al.
Published: (2023) -
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels
by: Rebecca S. Tooze, et al.
Published: (2023-02-01)