Chromosome 7p22 deletion – symptoms directly caused by the loss of gene ACTB

Chromosome 7p22 deletion and associated symptoms directly caused by the loss of gene ACTB. 7p22 deletion – a deletion within the short arm of chromosome 7 – causes a number of symptoms, including developmental delay, intellectual disability, internal organ malformations (primarily within the heart and kidneys), and facial abnormalities. These facial abnormalities include dense eyelashes,...
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BPTF gene mutation 17q24.2 deletion – microcephaly, developmental and speech delay

Chromatin remodeling is essential for DNA accessibility and gene regulation, and its disruption leads to a variety of disorders. The protein complex NURF (nucleosome remodeling factor) involved in chromatin remodeling is important in regulating fetal development. NURF contains the proteins SNF2L, pRBAP46/48, and BPTF. BPTF, in particular, is expressed throughout the body. The BPTF gene...
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