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
| Autor: | Gowda, Vykuntaraju K., K., Anusha Raj, Srinivasan, Varunvenkat M., Vamyanmane, Dhananjaya K., Srinivas, Sahana M., Chickabasaviah, Yasha, Santhoshkumar, Rashmi, Mittal, Pallavi, Chikara, Surendra K., Vishwanathan, Gurudatta Baraka |
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| Zdroj: | Journal of Pediatric Genetics; December 2024, Vol. 13 Issue: 4 p291-299, 9p |
| Databáze: | Supplemental Index |
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