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Article

The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia.

American journal of medical genetics. Part A - 1 May 2020

Abdulhadi-Atwan Maha, Klopstock Tehila, Sharaf Muna, Weinberg-Shukron Ariella, Renbaum Paul, Levy-Lahad Ephrat, Zangen David

Abstract excerpt

Processing of Precursor RNA 1 (POP1) is a core protein component shared by two essential closely related eukaryotic ribonucleoprotein complexes: RNase MRP (the mitochondrial RNA processing ribonuclease) and RNase P. Recently, five patients harboring mutations in POP1 have been reported with severe spondylo-epi-metaphyseal dysplasia and extremely short stature. We report a unique clinical phenotype resulting from...

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PMID: 32134183
DOI: 10.1002/ajmg.a.61538

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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