Associated Papers
Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis Syndrome MYH3-Related.
Blasi I et al.
Australasian Journal of Ultrasound in Medicine, 2025
Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).
He QB et al.
Molecular Genetics & Genomic Medicine, 2024
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