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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
J Med Genet. 2022 Jun;59(6):559-567. doi: 10.1136/jmedgenet-2020-107595. Epub 2021 Apr 5.
J Med Genet. 2022.
PMID: 33820833
Free PMC article.
Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.
Mejlachowicz D, Nolent F, Maluenda J, Ranjatoelina-Randrianaivo H, Giuliano F, Gut I, Sternberg D, Laquerrière A, Melki J.
Mejlachowicz D, et al. Among authors: ranjatoelina randrianaivo h.
Am J Hum Genet. 2015 Oct 1;97(4):616-20. doi: 10.1016/j.ajhg.2015.08.010. Epub 2015 Sep 10.
Am J Hum Genet. 2015.
PMID: 26365340
Free PMC article.
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