Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
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Title
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
Authors
Keywords
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Journal
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2020-05-19
DOI
10.1038/s41436-020-0811-8
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Note: Only part of the references are listed.- A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say–Barber–Biesecker–Young–Simpson syndrome
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- A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome
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