期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 57, 期 11-12, 页码 636-638出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2014.09.002
关键词
ZMYND11; Exome; Syndromic ID; 10p15.3
We report a boy with severe syndromic intellectual disability who has a de novo mutation in the ZMYND11 gene. Arguments for pathogenicity of this mutation are found in cases from the literature, especially several with 10p15.3 deletions, harbouring ZMYND11. Additional reports of ZMYND11 mutations in cases with syndromic intellectual disability are needed before the ZMYND11 mutation identified in our case can be considered as definitely pathogenic. (C) 2014 Elsevier Masson SAS. All rights reserved.
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