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Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder
- Source :
- Genetics in Medicine; 20240101, Issue: Preprints
- Publication Year :
- 2024
-
Abstract
- Biallelic INPP4Avariants have recently been associated with severe neurodevelopmental disease in single-case reports. Here, we expand and elucidate the clinical-genetic spectrum and provide a pathomechanistic explanation for genotype-phenotype correlations.
Details
- Language :
- English
- ISSN :
- 10983600 and 15300366
- Issue :
- Preprints
- Database :
- Supplemental Index
- Journal :
- Genetics in Medicine
- Publication Type :
- Periodical
- Accession number :
- ejs67448206
- Full Text :
- https://doi.org/10.1016/j.gim.2024.101278