Article

The contribution of de novo coding mutations to meningomyelocele

2024-03-02

Abstract excerpt

Meningomyelocele (MM) is considered a genetically complex disease resulting from failure of neural tube closure (NTD). Patients display neuromotor disability and frequent hydrocephalus requiring ventricular shunting. A few proposed genes contribute to disease susceptibility, but most risk remains unexplained 1 . We postulated that de novo mutations (DNMs) under purifying selection contribute to MM risk 2 . Here we...

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Literature Corpus work: 52177594-202a-5062-845d-8c24f8a75745
DOI: 10.1101/2024.02.28.24303390

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