Germline mosaicism in a family with MBD5 haploinsufficiency

Haploinsufficiency of the methyl-CpG-binding domain protein 5 (MBD5) gene causes a neurodevelopmental disorder that includes intellectual disability, developmental delay, speech impairment, seizures, sleep disturbances, and behavioral difficulties. Microdeletion of 2q23.1 is the most common cause of...

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Detalles Bibliográficos
Autores principales: Bhatia, Mehak, Cavalleri, Gianpiero L., White, Máire, Delanty, Norman, Sweeney, Brian J., Costello, Daniel J., Greally, Marie T., Benson, Katherine A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808559/
https://www.ncbi.nlm.nih.gov/pubmed/36396431
http://dx.doi.org/10.1101/mcs.a006253

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808559/
https://www.ncbi.nlm.nih.gov/pubmed/36396431
http://dx.doi.org/10.1101/mcs.a006253

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