Associated Papers
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Holtz AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman KD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
A human de novo mutation in MYH10 phenocopies the loss of function mutation in mice.
Tuzovic L et al.
Rare Diseases (austin, Tex.), 2013
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