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

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,...

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Bibliographic Details
Main Authors: Ingrid Anne Mandy Schierz, Salvatore Amoroso, Vincenzo Antona, Mario Giuffrè, Ettore Piro, Gregorio Serra, Giovanni Corsello
Format: Article
Language:English
Published: BMC 2022-07-01
Series:Italian Journal of Pediatrics
Subjects:
Case report
Syngnathia
Orofacial cleft
Ankylosis
Syndactyly
Popliteal pterygium syndrome
Online Access:https://doi.org/10.1186/s13052-022-01330-6

Internet

https://doi.org/10.1186/s13052-022-01330-6

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