A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.
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| Description | scientific article published on 11 December 2017 |
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author: Alessandro Vaisfeld Marcella Zollino |
| Publication date | December 11, 2017 |
| Language | English |
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