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Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia
Schaaf-Yang syndrome (SYS) is a recently identified disorder caused by a loss-of-function mutation in a maternally imprinted gene, MAGEL2, at 15q11.2q13. Due to its extreme rarity and wide range of clinical severity, clinical suspicion is difficult for a physician. In the current study, its frequenc...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Medicine (Baltimore) |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Lippincott Williams & Wilkins
2020
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7748310/ https://ncbi.nlm.nih.gov/pubmed/33371171 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000023864 |
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