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Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome

Coffin-Siris syndrome (CSS, MIM 135900) is a multi-system intellectual disability syndrome characterized by classic dysmorphic features, developmental delays, and organ system anomalies. Genes in the BRG1(BRM)-associated factors (BAF, Brahma associated factor) complex have been shown to be causative...

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Bibliografiska uppgifter
I publikationen:Genes (Basel)
Huvudupphovsmän: Vasko, Ashley, Drivas, Theodore G., Schrier Vergano, Samantha A.
Materialtyp: Artigo
Språk:Inglês
Publicerad: MDPI 2021
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC8233770/
https://ncbi.nlm.nih.gov/pubmed/34205270
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12060937
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