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NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
Hum Mol Genet. 2021 Jan 6;29(21):3516-3531. doi: 10.1093/hmg/ddaa237.
Hum Mol Genet. 2021.
PMID: 33105479
Free PMC article.
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
Gonzaga-Jauregui C, Yesil G, Nistala H, Gezdirici A, Bayram Y, Nannuru KC, Pehlivan D, Yuan B, Jimenez J, Sahin Y, Paine IS, Akdemir ZC, Rajamani S, Staples J, Dronzek J, Howell K, Fatih JM, Smaldone S, Schlesinger AE, Ramírez N, Cornier AS, Kelly MA, Haber R, Chim SM, Nieman K, Wu N, Walls J; Baylor-Hopkins Center for Mendelian Genetics, Regeneron Genetics Center; Poueymirou W, Siao CJ, Sutton VR, Williams MS, Posey JE, Gibbs RA, Carlo S, Tegay DH, Economides AN, Lupski JR.
Gonzaga-Jauregui C, et al. Among authors: dronzek j.
Eur J Hum Genet. 2020 Sep;28(9):1243-1264. doi: 10.1038/s41431-020-0632-x. Epub 2020 May 6.
Eur J Hum Genet. 2020.
PMID: 32376988
Free PMC article.
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