Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of pediatric genetics"
DOI: 10.1055/s-0038-1651526
Abstract: Mutations in KAT6A encoding a histone acetyltransferase involved in chromatin remodeling and in other genes involved in histone acetylation and/or deacetylation have been implicated in broad phenotypes of congenital and developmental abnormalities. However, limited genotype-phenotype… read more here.
Keywords: novo truncating; mutation kat6a; movement disorder; truncating mutation ... See more keywords
Inotuzumab ozogamicin resistance associated with a novel CD22 truncating mutation in a case of B‐acute lymphoblastic leukaemia
Sign Up to like & getrecommendations! Published in 2020 at "British Journal of Haematology"
DOI: 10.1111/bjh.16949
Abstract: Relapsed B-acute lymphoblastic leukaemia (B-ALL) remains a difficult disease to treat and is associated with a poor prognosis. Antibody-based immunotherapy (blinatumomab), antibody-drug conjugates [inotuzumab ozogamicin (InO)] and cellular immunotherapies [chimeric antigen receptor T cells (CAR-T)]… read more here.
Keywords: cd22; ino; lymphoblastic leukaemia; truncating mutation ... See more keywords
Genotype and Phenotype Analysis in X-Linked Hypophosphatemia
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2021.699767
Abstract: Background: X-linked hypophosphatemia (XLH) is the most frequent form of hypophosphatemic rickets and is caused by mutations in the PHEX gene. We analyzed genotype-phenotype correlations in XLH patients with proven PHEX mutations. Methods: PHEX mutations… read more here.
Keywords: genotype phenotype; truncating mutation; linked hypophosphatemia; mutation group ... See more keywords