Tag : Variant

Pediatrics

The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate

Newsemia
Schinzel-Giedion syndrome (SGS) is a multiple malformation syndrome mainly characterized by severe intellectual disability, distinctive facial features, and multiple congenital anomalies, including skeletal ab… Source...
Neurology

Primary hypoparathyroidism and multiple neuraxial involvement in mitochondrial disorder due to the variant m.15043G>A in MT-CYB

Newsemia
Mitochondrial disorders (MIDs) are a phenotypically and genotypically heterogeneous group of diseases characterized by multisystem involvement with defective mitochondrial metabolism, structure, or maintenance [1]. Phenotypic...
Latest News

The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia

Newsemia
Yau, WY; Raposo, M; Bettencourt, C; Labrum, R; Vasconcelos, J; Parkinson, MH; Giunti, P; … Houlden, H; + view all Yau, WY; Raposo, M; Bettencourt,...
Latest News

Reply: The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia

Newsemia
Flower, M; Lomeikaite, V; Holmans, P; Jones, L; Tabrizi, SJ; Monckton, DG; (2020) Reply: The repeat variant in MSH3 is not a genetic modifier for...
Latest News

Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates

Newsemia
Ling, H; Gelpi, E; Davey, K; Jaunmuktane, Z; Mok, KY; Jabbari, E; Simone, R; … Revesz, T; + view all Ling, H; Gelpi, E; Davey,...

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