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- Girisha, Katta M
- Kutsche, Kerstin 5
- Shukla, Anju 4
- Abdollahpour, Hengameh 1
- Alawi, Malik 1
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EBF3 Neurodevelopmental Disorder
2021 - Forschungsinformationssystem des UKE -
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The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
- Girisha, Katta M
- von Elsner, Leonie
- Neethukrishna, Kausthubham
- Muranjan, Mamta
- Shukla, Anju
- Bhavani, Gandham SriLakshmi
- Nishimura, Gen
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