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

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

2 results

Finished

Novel genomic approaches to identify the missing genetics underlying skeletal muscle disease
Ravenscroft, G. (Investigator 01) & Laing, N. (Investigator 04)
NHMRC National Health and Medical Research Council
11/01/21 → 31/12/23
Project: Research
Gene discovery and pathobiology in muscle diseases
Ravenscroft, G. (Investigator 01)
NHMRC National Health and Medical Research Council
1/01/17 → 31/07/22
Project: Research