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CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Am J Med Genet A. 2019 Jun;179(6):915-926. doi: 10.1002/ajmg.a.61122. Epub 2019 Mar 14.
Am J Med Genet A. 2019.
PMID: 30868735
Review.
Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder.
Thompson R, Papakonstantinou Ntalis A, Beltran S, Töpf A, de Paula Estephan E, Polavarapu K, 't Hoen PAC, Missier P, Lochmüller H.
Thompson R, et al.
Hum Mutat. 2019 Oct;40(10):1797-1812. doi: 10.1002/humu.23792. Epub 2019 Jun 23.
Hum Mutat. 2019.
PMID: 31231902
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