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Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
Brain. 2022 Oct 21;145(10):3711-3722. doi: 10.1093/brain/awac110.
Brain. 2022.
PMID: 35325049
Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia.
Guasto A, Cormier-Daire V.
Guasto A, et al.
Int J Mol Sci. 2021 Apr 21;22(9):4321. doi: 10.3390/ijms22094321.
Int J Mol Sci. 2021.
PMID: 33919228
Free PMC article.
Review.
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TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature.
Costantini A, Guasto A, Cormier-Daire V.
Costantini A, et al. Among authors: guasto a.
Annu Rev Genomics Hum Genet. 2023 Aug 25;24:225-253. doi: 10.1146/annurev-genom-120922-094107.
Annu Rev Genomics Hum Genet. 2023.
PMID: 37624666
Free article.
Review.
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