Exome Sequencing in Monogenic Forms of Rickets

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 sequenc...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer India 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10627992/
https://www.ncbi.nlm.nih.gov/pubmed/36692815
http://dx.doi.org/10.1007/s12098-022-04393-9

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