The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

Katta M. Girisha, Leonie von Elsner, Kausthubham Neethukrishna, Mamta Muranjan, Anju Shukla, Gandham Sri Lakshmi Bhavani, Gen Nishimura, Kerstin Kutsche, Geert Mortier

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Medicine & Life Sciences