A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres.
Gang Q, Bettencourt C, Holton J, Lovejoy C, Chelban V, Oconnor E, Yuan Y, Reilly MM, Hanna M, Houlden H. J Neurol. 2020 Sep; 267(9):2705-2712. Epub 2020 May 22.