The homozygous variant c.797G>A/p.(Cys266Tyr) in<i>PISD</i>is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
Katta M. Girisha(Manipal Academy of Higher Education), Geert Mortier(Center for Human Genetics), Mamta Muranjan(King Edward Memorial Hospital and Seth G.S. Medical College), Gen Nishimura(Musashino University), Neethukrishna Kausthubham(Manipal Academy of Higher Education), Leonie von Elsner(Medizinische Hochschule Hannover), Gandham SriLakshmi Bhavani(Manipal Academy of Higher Education), Kerstin Kutsche(Universität Hamburg), Anju Shukla(Manipal Academy of Higher Education)
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