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A second individual with rhizomelic spondyloepimetaphyseal ..:
Sabbagh, Quentin
;
Alkar, Fanny
;
Patte, Karine
...
European Journal of Medical Genetics. 65 (2022) 6 - p. 104495 , 2022
Link:
https://doi.org/10.1016/j.ejmg.2022.104495
RT Journal T1
A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ejmg.2022.104495&Exemplar=1&LAN=DE A1 Sabbagh, Quentin A1 Alkar, Fanny A1 Patte, Karine A1 Prodhomme, Olivier A1 Janel, Caroline A1 Touraine, Renaud A1 Jeandel, Claire A1 Geneviève, David PB Elsevier BV YR 2022 SN 1769-7212 JF European Journal of Medical Genetics VO 65 IS 6 SP 104495 LK http://dx.doi.org/https://doi.org/10.1016/j.ejmg.2022.104495 DO https://doi.org/10.1016/j.ejmg.2022.104495 SF ELIB - SuUB Bremen
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