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Biallelic loss of function variants inWBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome

2023-06-27

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<h4>ABSTRACT</h4> Over two dozen spliceosome proteins are involved in human diseases, also referred to as spliceosomopathies. WBP4 (WW Domain Binding Protein 4) is part of the early spliceosomal complex, and was not described before in the context of human pathologies. Ascertained through GeneMatcher we identified eleven patients from eight families, with a severe neurodevelopmental syndrome with variable manifest...

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Literature Corpus work: 2dd1a03f-ffd6-5e3e-b15f-a29ce6e772f5
DOI: 10.1101/2023.06.19.23291425

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Biallelic loss of function variants in<i>WBP4</i>, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome

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