Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B

Benjamin Kamien, Joshua S. Clayton, Han Shin Lee, Disna Abeysuriya, Elyshia McNamara, Jelena Martinovic, Marie Gonzales, Judith Melki, Gianina Ravenscroft

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2 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology