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Article

Mutations of family with sequence similarity 20-member C gene causing lethal and nonlethal Raine syndrome causes hypophosphatemia rickets.

Journal of cellular physiology - 1 Nov 2023

Liu Peihong, Li Jiaxuan, Tang Linghao, Cong Wei, Jin Han, Zhang Hong, Cui Bing, Yang Shan, Xiao Jing, Liu Chao, Saiyin Wuliji

Abstract excerpt

Family with sequence similarity 20-member C (FAM20C) is a kinase specific to most of the secreted phosphoproteome. FAM20C has been identified as the causative gene of Raine syndrome, initially characterized by lethal osteosclerosis bone dysplasia. However, since the identification of the cases of nonlethal Raine syndrome characterized by hypophosphatemia rickets, the previous definition of Raine syndrome has...

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PMID: 37698039
DOI: 10.1002/jcp.31105

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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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