Genotype–Phenotype Correlations in Asian Indian Children and Adolescents with Primary Hyperparathyroidism

Childhood and adolescent primary hyperparathyroidism (PHPT) is a very rare disease. Data on its molecular genetics are scarce. We performed a retrospective analysis (January 2000-January 2021) to determine the deleterious germline variants and genotype–phenotype correlations in children and adolesce...

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Veröffentlicht in:	Calcified tissue international 2022-09, Vol.111 (3), p.229-241
Hauptverfasser:	Sharma, Anima, Memon, Saba, Lila, Anurag R., Sarathi, Vijaya, Arya, Sneha, Jadhav, Swati S., Hira, Priya, Garale, Mahadeo, Gosavi, Vikrant, Karlekar, Manjiri, Patil, Virendra, Bandgar, Tushar
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenoma Adolescents Biochemistry Biomedical and Life Sciences Calcium-sensing receptors Cell Biology Children Endocrinology Genotypes Hypercalciuria Hyperparathyroidism Life Sciences Original Research Orthopedics Pancreatitis Parathyroid hormone Patients Phenotypes Rare diseases Teenagers
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Beschreibung
Zusammenfassung:	Childhood and adolescent primary hyperparathyroidism (PHPT) is a very rare disease. Data on its molecular genetics are scarce. We performed a retrospective analysis (January 2000-January 2021) to determine the deleterious germline variants and genotype–phenotype correlations in children and adolescents
ISSN:	1432-0827 0171-967X 1432-0827
DOI:	10.1007/s00223-022-00985-x