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Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype
De novo truncating and splicing pathogenic variants in the Additional Sex Combs‐Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features. We previously reported 45 patients with A...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10087684/ https://www.ncbi.nlm.nih.gov/pubmed/36177608 http://dx.doi.org/10.1002/ajmg.a.62981 |