Associated Papers
Case Report: The success of face analysis technology in extremely rare genetic diseases in Korea: Tatton-Brown-Rahman syndrome and Say-Barber -Biesecker-Young-Simpson variant of ohdo syndrome.
Park S et al.
Frontiers in Genetics, 2022
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
Campeau PM et al.
Human Mutation, 2012
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.
Clayton-Smith J et al.
American Journal of Human Genetics, 2011
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