De novo KAT6B mutation causes Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome in an Iranian boy: a case report

De novo KAT6B mutation causes Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome in an Iranian boy: a case report

Abstract Background Say–Barber–Biesecker–Young–Simpson (SBBYS) (OMIM #603736, Ohdo syndrome variant) is a rare type of severe blepharophimosis intellectual disability syndrome, which is generally characterized by a global developmental delay, distinctive facial features, and intellectual disability...

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Bibliographic Details
Main Authors: Behzad Davarnia, Mohammad Panahi, Bahareh Rahimi, Hassan Anari, Reza Farajollahi, Ehsan Abbaspour Rodbaneh, Farhad Jeddi
Format: Article
Language:English
Published: BMC 2024-01-01
Series:Journal of Medical Case Reports
Subjects:
Say–Barber–Biesecker–Young–Simpson (SBBYS)
NGS
KAT6B gene
Human genetics
Case report
Online Access:https://doi.org/10.1186/s13256-023-04237-w

Internet

https://doi.org/10.1186/s13256-023-04237-w

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