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A Rare Case of Neuronal Ceroid Lipofuscinosis-Type 1 (NCL-1) with Vitamin D-Dependent Rickets-Type 1 (VDDR-1), Complex 1 Mitochondrial Deficiency, and Mixed Variant-Checkerboard and Phylloid Type of Pigmentary Mosaicism.
Gowda VK, K AR, Srinivasan VM, Vamyanmane DK, Srinivas SM, Chickabasaviah Y, Santhoshkumar R, Mittal P, Chikara SK, Vishwanathan GB. Gowda VK, et al. Among authors: k ar. J Pediatr Genet. 2024 May 30;13(4):291-299. doi: 10.1055/s-0044-1787196. eCollection 2024 Dec. J Pediatr Genet. 2024. PMID: 39502845