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Archana Kawalakatt

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Open access Sep 2026

Identification of the Genomic Etiology of Unexplained Congenital Problems in Pediatric Patients: First Reported Case With Coffin–Siris Syndrome and Sialuria From India

Coffin–Siris syndrome (CSS) (OMIM:614608) is a rare genetic disorder characterized by global developmental delay (GDD), speech impediment, coarse facial features, and hypoplastic or absent fifth fingernails/toenails. Genetic variants in the SMARCB1 gene are associated with CSS, benign tumors (schwannomas), and rhabdoid...

Aparna Bhanushali, Archana Kawalakatt, Smita S. Kulkarni et al. · 0 citations

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