The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
Girisha KM et al. Hum Mutat. 2019;40(3):299-309
ERN-BOND is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are Funded by the European Commission. For more information about the ERNs and the EU health strategy, please visit ec.europa.eu/health/ern
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ERN BOND Specific Grant Agreement no. 101157116
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Istituto Ortopedico Rizzoli
via G.C.Pupilli, 1 – 40136 Bologna – Italy
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Co-funded by the European Union
ERN BOND Specific Grant Agreement no. 101157116
Coordinating Center
Istituto Ortopedico Rizzoli
via G.C.Pupilli, 1 – 40136 Bologna – Italy
The contents of this website represents the views of the network and is its sole responsibility; and do not necessarily reflect the opinion of the European Union
