Literature DB >> 25503807

Tetralogy of Fallot, microcephaly, short stature and brachymesophalangy is associated with hemizygous loss of noncoding MIR17HG and coding GPC5.

Karen J Low1, Chris C Buxton, Ruth A Newbury-Ecob.   

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Year:  2015        PMID： 25503807     DOI： 10.1097/MCD.0000000000000069

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  2 in total

1.  Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2.

Authors:  Michael Muriello; Alexander Y Kim; Krista Sondergaard Schatz; Natalie Beck; Meral Gunay-Aygun; Julie E Hoover-Fong
Journal:  Am J Med Genet A       Date:  2019-01-23       Impact factor: 2.802

2.  Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.

Authors:  Ye Wang; Xueli Wu; Liu Du; Ju Zheng; Songqing Deng; Xin Bi; Qiuyan Chen; Hongning Xie; Claude Férec; David N Cooper; Yanmin Luo; Qun Fang; Jian-Min Chen
Journal:  Hum Genomics       Date:  2018-01-25       Impact factor: 4.639
  2 in total

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