Biallelic variants in HMGCS1 are a novel cause of rare rigid spine syndrome

L. Dofash, J. Haywood, E. Rivas, J. Wyllie, Soares T. da Costa, J. Clayton, R. Taylor, D. Groth, C. Paradas, C. Fiorillo, M. Scala, S. Donkervoort, C. Bonnemann, G. VanNoy, B. Mangilog, L. Pais, I. Nishino, N. Laing, M. Cabrera-Serrano, G. Ravenscroft

Research output: Contribution to journalAbstract/Meeting Abstractpeer-review

Original languageEnglish
Number of pages1
JournalNeuromuscular Disorders
Publication statusPublished - Oct 2022

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