Article
Genotype-phenotype correlation of KATP channel gene defects causing permanent neonatal diabetes in Indian patients.
Pediatric diabetes - 1 Feb 2021
Gopi Sundaramoorthy, Kavitha Babu, Kanthimathi Sekar, Kannan Alagarsamy, Kumar Rakesh, Joshi Rajesh, Kanodia Swati, Arya Archana Dayal, Pendsey Sanket, Pendsey Sharad, Raghupathy Palany, Mohan Viswanathan, Radha Venkatesan
Abstract excerpt
BACKGROUND: There are very few reports pertaining to Indian patients with neonatal diabetes mellitus (NDM). Activating or gain of function mutations of KATP channel genes namely KCNJ11 and ABCC8 are most predominant cause of permanent neonatal diabetes mellitus (PNDM). OBJECTIVES: To identify the genotype-phenotype correlation of KATP channel gene defects in a large series of (n = 181) Indian PNDM patients....
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