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| snijders_blok_campeau [2025/06/14 02:15] – Scott Larson | snijders_blok_campeau [2025/06/14 02:17] (current) – [References] Scott Larson |
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| * Mutations in the [[https://medlineplus.gov/genetics/gene/chd3/ |CHD3 gene]] which encodes for a protein that regulates gene activity through chromatin remodeling. | * Mutations in the [[https://medlineplus.gov/genetics/gene/chd3/ |CHD3 gene]] which encodes for a protein that regulates gene activity through chromatin remodeling. |
| ====References==== | ====References==== |
| - {{::chd3_helicase_domain_mutations_cause_a_neurodevelopmental_syndrome_with_macrocephaly_and_impaired_speech_and_language.pdf |Snijders Blok et al. CHD3 helicase domain mutations cause a neurodevelopment syndrome with macrocephaly and impaired speech and language. Nature Communications 2018;9:4619}} | - [[https://1drv.ms/b/c/31d83ae8e55e0542/EYLeIuWYGLpIuUDevaJTPlEBH6LR1CI1JnTwOSxyay49-w?e=b8YcdF|Snijders Blok et al. CHD3 helicase domain mutations cause a neurodevelopment syndrome with macrocephaly and impaired speech and language. Nature Communications 2018;9:4619]] |
| - [[https://medlineplus.gov/genetics/condition/snijders-blok-campeau-syndrome/#causes|Medline Plus entry]] | - [[https://medlineplus.gov/genetics/condition/snijders-blok-campeau-syndrome/#causes|Medline Plus entry]] |
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| {{tag>syndrome}} | {{tag>syndrome}} |