KBG syndrome: report and follow-up on three unrelated patients observed at different ages

KBG syndrome: report and follow-up on three unrelated patients observed at different ages

Abstract Background KBG syndrome (MIM #148050) is a rare genetic disease, showing an autosomal dominant pattern of inheritance. It was first described by Herrmann et al. in 1975 in three affected families, whose initial letters gave origin to the acronym. A peculiar facies including triangular face,...

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Bibliographic Details
Main Authors: Gregorio Serra, Pierandrea Elefante, Ylenia Gazzitano, Luigi Memo, Valeria Mineo, Carla Morando, Rosaria Nardello, Ettore Piro, Laura Travan, Giovanni Corsello
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Italian Journal of Pediatrics
Subjects:
ANKRD11 gene
array-CGH
Next generation sequencing
Sanger sequencing
16q24.3 deletion
Online Access:https://doi.org/10.1186/s13052-025-01884-1

Internet

https://doi.org/10.1186/s13052-025-01884-1

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