J Clin Endocrinol Metab
December 2024
Background: Hereditary hypophosphatemia (HH), is a rare condition related to decreased renal tubular phosphate reabsorption. Although X-linked hypophosphatemia or PHEX gene variant is the most frequent cause of HH, recent advances in next-generation sequencing (NGS) techniques enable the identification of genetic etiologies as a whole.
Objective: To identify genetic causes of HH using various genetic testing methods and to compare clinical features between FGF23-dependent and FGF23-independent HH groups.
Purpose: The development of modern Artificial Intelligence (AI) based models for the early diagnosis of Parkinson's disease (PD) has been gaining deep attention by researchers recently. In particular, the use of different types of datasets (voice, hand movements, gait, etc.) increases the variety of up-to-date models.
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