SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.

Horga A, Tomaselli PJ, Gonzalez MA, Laur? M, Muntoni F, Manzur AY, Hanna MG, Blake JC, Houlden H, Z?chner S, Reilly MM. SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome. Neurology. 2016 Oct 11; 87(15):1607-1612.

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subject areas

Humans
Male
Muscular Atrophy, Spinal
Mutation, Missense
Phenotype
Receptors, sigma
Syndrome
Young Adult

authors with profiles

Michael J Gonzalez

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