Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462

BACKGROUND: Loss of function variants and whole gene deletions of ZNF462 has been associated with a novel phenotype of developmental delay/intellectual disability and distinctive facial features. Over two dozen cases have been reported to date and the condition is now known as Weiss‐Kruszka syndrome...

Descripción completa

Detalles Bibliográficos
Autores principales: Brady, Lauren, Ballantyne, Mark, Duck, John, Fisker, Thomas, Kleefman, Ryan, Li, Chumei, Nfonsam, Landry, Schultz, Lee‐Anne, Tarnopolsky, Mark, McCready, Elizabeth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10009906/
https://www.ncbi.nlm.nih.gov/pubmed/36461789
http://dx.doi.org/10.1002/mgg3.2116

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10009906/
https://www.ncbi.nlm.nih.gov/pubmed/36461789
http://dx.doi.org/10.1002/mgg3.2116

Ejemplares similares