A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1
| Autor: | Sabbagh, Quentin, Alkar, Fanny, Patte, Karine, Prodhomme, Olivier, Janel, Caroline, Touraine, Renaud, Jeandel, Claire, Geneviève, David |
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| Zdroj: | In European Journal of Medical Genetics June 2022 65(6) |
| Databáze: | ScienceDirect |
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