Article

Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder

2024-05-05

Abstract excerpt

Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have only been described in six individuals carrying five biallelic predicted loss of function (pLOF) variants. To define the phenotypic effect...

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Literature Corpus work: 45d3a6b4-bf48-5c46-8ced-334764329a36
DOI: 10.1101/2024.05.03.24306631

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