A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome
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DOI: 10.1038/s41439-019-0046-x
Abstract: A loss of function mutation in SLC9A6 (Xq26.3) is responsible for Christianson syndrome in males. We identified a novel splicing mutation (NM_006359.2:c.1141-8C>A) of SLC9A6 in a seven-year-old boy with microcephaly, severe developmental delay, and intractable… read more here.
Keywords: slc9a6; mutation slc9a6; novel splicing; christianson syndrome ... See more keywords