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

Research output: Contribution to journal › Article › peer-review

44 Citations (Scopus)

Fingerprint

Dive into the research topics of 'The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function'. Together they form a unique fingerprint.

INIS

Biochemistry, Genetics and Molecular Biology