Tbilisi State Medical University Researcher Adds New Findings in the Area of Clubfoot (A novel STAG1 variant associated with congenital clubfoot and microphthalmia: A case report).

Předmět:	MEDICAL genetics MUSCULOSKELETAL system diseases NEWSPAPER editors MOLECULAR spectra MOLECULAR genetics CLUBFOOT
Zdroj:	Genomics & Genetics Weekly; 9/20/2024, p1781-1781, 1p
Abstrakt:	A recent study conducted at Tbilisi State Medical University has identified a novel variant in the STAG1 gene that is associated with congenital clubfoot and microphthalmia. The cohesin protein complex, which includes the STAG1 subunit, plays a crucial role in various cellular processes. This finding expands our understanding of STAG1-related cohesinopathy and highlights the clinical diversity within cohesinopathies. Further research is needed to investigate the genotype-phenotype correlation and functional aspects of this condition. [Extracted from the article]
Databáze:	Complementary Index
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