Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder

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, it is m...

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Detalles Bibliográficos
Autores principales: Schierz, Ingrid Anne Mandy, Amoroso, Salvatore, Antona, Vincenzo, Giuffrè, Mario, Piro, Ettore, Serra, Gregorio, Corsello, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9338470/
https://www.ncbi.nlm.nih.gov/pubmed/35906647
http://dx.doi.org/10.1186/s13052-022-01330-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9338470/
https://www.ncbi.nlm.nih.gov/pubmed/35906647
http://dx.doi.org/10.1186/s13052-022-01330-6

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