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Article

An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO

27 Jun 2019

Abstract excerpt

Cartilage hair hypoplasia (CHH), anauxetic dysplasia 1, and anauxetic dysplasia 2 are rare metaphyseal dysplasias caused by biallelic pathogenic variants in RMRP and POP1, which encode the components of RNAse-MRP endoribonuclease complex (RMRP) in ribosomal biogenesis pathway. Nucleolus and neural progenitor protein (NEPRO), encoded by NEPRO (C3orf17), is known to interact with multiple protein subunits of RMRP....

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PMID: 31250547
DOI: 10.1002/ajmg.a.61267

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