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Article

Exome Sequencing in Monogenic Forms of Rickets.

Indian journal of pediatrics - 1 Dec 2023

Jacob Prince, Bhavani Gandham SriLakshmi, Udupa Prajna, Wang Zheng, Hariharan Sankar V, Delampady Kishan, Dalal Ashwin, Kamath Nutan, Ikegawa Shiro, Shenoy Rathika D, Handattu Koushik, Shah Hitesh, Girisha Katta M

Abstract excerpt

OBJECTIVE: To understand the phenotypic and genotypic spectrum of genetic forms of rickets in 10 families. METHODS: Detailed clinical, radiographic, and biochemical evaluation of 10 families with phenotypes suggestive of a genetic cause of rickets was performed. Molecular testing using exome sequencing aided in the diagnosis of six different forms of known genetic causes. RESULTS: Eleven disease-causing variants...

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Identifiers

PMID: 36692815
DOI: 10.1007/s12098-022-04393-9
PMCID: PMC10627992

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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