MED12-Related (Neuro)Developmental Disorders: A Question of Causality

MED12 is a member of the Mediator complex that is involved in the regulation of transcription. Missense variants in MED12 cause FG syndrome, Lujan-Fryns syndrome, and Ohdo syndrome, as well as non-syndromic intellectual disability (ID) in hemizygous males. Recently, female patients with de novo miss...

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Detalles Bibliográficos
Autores principales: van de Plassche, Stijn R., de Brouwer, Arjan P. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8146938/
https://www.ncbi.nlm.nih.gov/pubmed/33925166
http://dx.doi.org/10.3390/genes12050663

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8146938/
https://www.ncbi.nlm.nih.gov/pubmed/33925166
http://dx.doi.org/10.3390/genes12050663

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