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
This study is the first report worldwide of the co‐occurrence of the co‐occurrence of two extremely rare disorders and highlights the complexity of genomic contributions while also emphasizing the value of genomic sequencing for congenital problems.
Aparna Bhanushali, Archana Kawalakatt, Smita S. Kulkarni et al.
· Clinical Case Reports · 0 citations