Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder
Abstract Background Congenital maxillomandibular syngnathia is a rare craniofacial anomaly leading to difficulties in feeding, breathing and ability to thrive. The fusion may consist of soft tissue union (synechiae) to hard tissue union. Isolated cases of maxillomandibular fusion are extremely rare,...
| Үндсэн зохиолчид: | , , , , , , |
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| Формат: | Өгүүллэг |
| Хэл сонгох: | English |
| Хэвлэсэн: |
BMC
2022-07-01
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| Цуврал: | Italian Journal of Pediatrics |
| Нөхцлүүд: | |
| Онлайн хандалт: | https://doi.org/10.1186/s13052-022-01330-6 |