Publication
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
Vykuntaraju K. Gowda, Anusha Raj K., Varunvenkat M. Srinivasan, Dhananjaya K. Vamyanmane, Sahana M. Srinivas, Yasha Chickabasaviah, Rashmi Santhoshkumar, Pallavi Mittal, Surendra K. Chikara, Gurudatta Baraka Vishwanathan
Journal of Pediatric Genetics, May 2024, Thieme Publishing Group
DOI: 10.1055/s-0044-1787196