Article
7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.
European journal of medical genetics - 1 Oct 2016
Shimojima Keiko, Narai Satoshi, Togawa Masami, Doumoto Tomotsune, Sangu Noriko, Vanakker Olivier M, de Paepe Anne, Edwards Matthew, Whitehall John, Brescianini Sally, Petit Florence, Andrieux Joris, Yamamoto Toshiyuki
Abstract excerpt
There are no published reports of patients harboring microdeletions involving the 7p22.1 region. Although 7p22.1 microdeletions are rare, some reports have shown microduplications encompassing this region. In this study, we report five patients with overlapping deletions of the 7p22.1 region. The patients exhibited clinical similarities including non-specific developmental delay, short stature, microcephaly, and...
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