Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1
| Autor: | Fellman, Vineta, Banerjee, Rishi, Lin, Kai-Lan, Pulli, Ilari, Cooper, Helen, Tyynismaa, Henna, Kallijärvi, Jukka |
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| Zdroj: | In BBA - Molecular Basis of Disease 1 January 2022 1868(1) |
| Databáze: | ScienceDirect |
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