Article info
PDFDevelopmental defects
Original research
Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1
- Correspondence to Dr Sadaf Naz, School of Biological Sciences, University of the Punjab, Lahore 54590, Pakistan; naz.sbs{at}pu.edu.pk; Dr Outi Mäkitie; outi.makitie{at}helsinki.fi
Citation
Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1
Publication history
- Received February 20, 2020
- Revised May 18, 2020
- Accepted May 21, 2020
- First published June 26, 2020.
Online issue publication
April 27, 2021
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© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.