EVEN-plus syndrome
Definition:
EVEN-plus (epiphyseal, vertebral, ear, nose, plus associated findings) syndrome is a rare multiple congenital anomalies syndrome. Mutations in the HSPA9 gene, coding for the mitochondrial chaperone mortalin, cause EVEN-plus syndrome.
References:
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[1]. Beryl Royer-Bertrand, et al. Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. Sci Rep. 2015 Nov 24;5:17154. [Content Brief]
[2]. Mitchell A Moseng, et al. Biophysical Consequences of EVEN-PLUS Syndrome Mutations for the Function of Mortalin. J Phys Chem B. 2019 Apr 25;123(16):3383-3396. [Content Brief]
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