Biallelic variants in HMGCS1 are a novel cause of rare rigid spine syndrome
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Yoshihiko Saito | R. Bryson-Richardson | G. Ravenscroft | E. Rivas | D. Stroud | S. Baratto | G. VanNoy | M. Traverso | M. Cabrera-Serrano | Rhonda L. Taylor | Malika Sud | Rita J Serrano | Chiara Folland | C. Folland | M. Madruga‐Garrido | Daniella H. Hock | Brian E. Mangilog | Marcello Scala | Carsten G. Bönnemann | Sandra Donkervoort | Vanessa Calcinotto | Katsuhisa Ogata | Nigel G. Laing | Federico Zara | Ichizo Nishino | Georg Ramm | Carmen Paradas | NH Lein | Dofash | Lee B Miles | Sara Oveissi | Rachel Templin | Alison Rodger | Joel Haywood | Evan Ingley | Joshua S Clayton | David Groth | Svetlana Gorokhova | Grace VanNoy | Lynn Pais | Marcos Madruga-Garrido | Chiara Fiorillo | Claudio Bruno | Lee B. Miles | B. Mangilog | S. Donkervoort