Fig. 1: Pedigrees of the participating families and the pathogenic MYH3 variants detected in the study. | npj Genomic Medicine

Fig. 1: Pedigrees of the participating families and the pathogenic MYH3 variants detected in the study.

From: Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders

Fig. 1: Pedigrees of the participating families and the pathogenic MYH3 variants detected in the study.The alternative text for this image may have been generated using AI.

In family A, B and C the affected individuals have dominant MYH3-associated skeletal fusion syndrome, in families D, E, F, G, H, I and J the affected individuals have recessive MYH3-associated skeletal fusion syndrome. The pathogenic variants are summarized in the table below the pedigrees.

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