| Literature DB >> 32758660 |
Mio Aerden1, Marijke Bauters1, Kris Van Den Bogaert1, Joris R Vermeesch1, Maureen Holvoet1, Frank Plasschaert2, Koenraad Devriendt3.
Abstract
Interstitial 19q13.11 deletions are associated with ectrodactyly, which has recently been linked to loss-of-function of the UBA2 gene. We report a boy with a de novo frameshift mutation in UBA2 (c.612delA (p.(Glu205Lysfs*63)), presenting with ectrodactyly of the feet associated with learning difficulties and minor physical anomalies. We review genotype-phenotype correlations in patients with chromosomal 19q13.11 microdeletions compared to those with intragenic UBA2 mutations.Entities:
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Year: 2020 PMID： 32758660 DOI： 10.1016/j.ejmg.2020.104009
Source DB: PubMed Journal: Eur J Med Genet ISSN： 1769-7212 Impact factor: 2.708