Phenotypic and Genotypic Spectrum of Indian Patients with Hypophosphatasia
Introduction: Hypophosphatasia (HPP) is a rare disorder, with only two genetically proven cases reported from India. Here, We report five Indian patients with genetically proven hypophosphatasia and describe their clinical, biochemical, and genetic profiles. Methods: The study included patients with...
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| Main Authors: | Melkunte S. Dhananjaya, S. Thrupti, Hamsa V. Reddy, Anusha Nadig, Kenchappa S. Adarsh, Swati Jadhav, Parvathy Lalitha, Sandhya Nair, Shaila Bhattacharyya, Anurag Lila, Vijaya Sarathi |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2025-03-01
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| Series: | Indian Journal of Endocrinology and Metabolism |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/ijem.ijem_378_24 |
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