Spinal muscular atrophy with congenital bone fractures

Definition:

Spinal muscular atrophy with congenital bone fractures (SMABF) is a rare autosomal recessive disorder. It has been reported that mutations in two genes (TRIP4 and ASCC1) are associated with this disease. Both TRIP4 and ASCC1 encode subunits of the nuclear activating signal cointegrator 1 (ASC-1) complex.

References:

[1]. Ellen Knierim, et al. Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. Am J Hum Genet. 2016 Mar 3;98(3):473-489. [Content Brief]

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