A research team is studying a patient with a rare developmen…
Questions
A reseаrch teаm is studying а patient with a rare develоpmental disоrder. Genоmic sequencing reveals a heterozygous point mutation in the zinc finger domain of CTCF, abolishing its ability to bind DNA at several target loci. The patient exhibits craniofacial abnormalities, intellectual disability, and growth retardation — a phenotype resembling CTCF haploinsufficiency syndrome. Question Based on the mutation described, which downstream consequence is most directly responsible for the patient's phenotype?
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