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
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2025-03-01
Series:Indian Journal of Endocrinology and Metabolism
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Online Access:https://journals.lww.com/10.4103/ijem.ijem_378_24
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