Ontology highlight
ABSTRACT:
INSTRUMENT(S): Orbitrap Fusion Lumos
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Cell Culture, Fibroblast
DISEASE(S): Neuromuscular Disease
SUBMITTER: Andreas Hentschel
LAB HEAD: Andreas Hentschel
PROVIDER: PXD023584 | Pride | 2022-02-16
REPOSITORIES: Pride
Action | DRS | |||
---|---|---|---|---|
20200728_144326_NME_VNFibros_45-16.sne | Other | |||
Lumos09591_KO.raw | Raw | |||
Lumos09592_45-16_1.raw | Raw | |||
Lumos09593_45-16_2.raw | Raw | |||
Lumos09594_45-16_3.raw | Raw |
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European journal of human genetics : EJHG 20210601 9
TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in the TRIP4 gene have been associated with spinal muscular atrophy with bone fractures as well as a severe form of congenital muscular dystrophy. Here we present the diagnostic journey of a patient with cerebellar hypoplasia and spinal muscular atrophy (PCH1) and congenital bone fractures. Initial exome ...[more]