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Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.
J Med Genet. 2024 Mar 21;61(4):363-368. doi: 10.1136/jmg-2023-109151.
J Med Genet. 2024.
PMID: 38290823
Free PMC article.
Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis.
Walton IS, McCann E, Weber A, Morton JEV, Noons P, Wilson LC, Ching RC, Cilliers D, Johnson D, Phipps JM, Shears DJ, Thomas GPL, Wall SA, Twigg SRF, Wilkie AOM.
Walton IS, et al.
J Anat. 2024 May 17. doi: 10.1111/joa.14052. Online ahead of print.
J Anat. 2024.
PMID: 38760592
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