Current and Emerging Issues in Wilson’s Disease | New England Journal of Medicine Skip to
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The future of clinical diagnosis and treatment of hematologic diseases will inevitably involve
the integration of artificial intelligence (AI)-based systems into routine practice to support the …

Accurately modeling and predicting RNA biology has been a long-standing challenge,
bearing significant clinical ramifications for variant interpretation and the formulation of …

Background Wilson's disease (WD) is usually diagnosed in children and young adults;
limited data exist on late‐onset forms. Objective The aim was to characterize the clinical and …

Background Wilson disease is an autosomal recessive disorder of copper metabolism
caused by mutations in the ATP7B gene. An early diagnosis is crucial to prevent evolution of …

Wilson disease (WD) is a hereditary disorder of copper metabolism, resulting from mutations
within ATP7B. Early diagnosis is essential for affected individuals. However, there are still …

WD repeat domain 83 opposite strand (WDR83OS) encodes the 106-aa (amino acid)
protein Asterix, which heterodimerizes with CCDC47 to form the PAT (protein associated …

Background & Aims The association between Wilson disease and various ATP7B mutations
is well-established; however, the molecular mechanism underlying the functional …

Abstract Background & Aims Wilson disease (WD) is a copper metabolism disorder caused
by mutations in ATP7B gene, with significant clinical variability. Several studies have …

The proband with congenital heart disease and abnormal thumb was clinically diagnosed as
Holt–Oram syndrome (HOS). A novel variant, T‐box transcription factor 5 (TBX5) c. 755+ 1 …