Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb-girdle muscular dystrophy-18.
Hadouiri N, Thomas Q, Darmency V, Dulieu V, De Rougemont MM, Bruel AL, Duffourd Y, Lecoquierre F, Colomb B, Perez-Martin S, Ornetti P, Blanchard O, Sorlin A, Philippe C, Faivre L, Vitobello A, Thauvin-Robinet C.
Hadouiri N, et al. Among authors: faivre l.
Clin Genet. 2021 Nov;100(5):643-644. doi: 10.1111/cge.14045. Epub 2021 Aug 25.
Clin Genet. 2021.
PMID: 34435357
No abstract available.