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PubMed ID | Description |
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20691407 | Williams et al. (2010) reports 2 cases of individuals with mutations in HDAC4 presenting with brachydactyly-mental retardation syndrome (BDMR). One case is a one bp insertion resulting in a premature stop codon (counted as 1). The second case is an intronic deletion that "probably alters splicing of exons 5 -6," but there is no supporting evidence that this mutation affects the expression of HDAC4 (count as 0). |
Individuals with BDMR present with variable features including intellectual disability, developmental delays, short stature, and brachymetaphalangia.