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Chédiak-Higashi syndrome with novel gene mutation

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Published in 2017 at "BMJ Case Reports"

DOI: 10.1136/bcr-2016-216628

Abstract: Chédiak-Higashi syndrome (CHS) is a rare disorder of immune deficiency with autosomal recessive inheritance. Over the past 20 years, ∼500 cases were published worldwide. The mean age of onset is 5–6 years. We report here a case… read more here.

Keywords: syndrome novel; higashi syndrome; case; gene ... See more keywords