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...

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Detalles Bibliográficos
Autores principales: Schirwani, Schaida, Woods, Emily, Koolen, David A., Ockeloen, Charlotte W., Lynch, Sally Ann, Kavanagh, Karl, Graham, John M., Grand, Katheryn, Pierson, Tyler Mark, Chung, Jeffrey M., Balasubramanian, Meena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
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

Internet

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

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