PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features
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Title
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features
Authors
Keywords
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Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 25, Issue 5, Pages 552-559
Publisher
Springer Nature
Online
2017-03-22
DOI
10.1038/ejhg.2017.27
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- (2015) D. Lehalle et al. CLINICAL GENETICS
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- (2014) Morad Ansari et al. JOURNAL OF MEDICAL GENETICS
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- (2014) Martin Kircher et al. NATURE GENETICS
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- (2009) J.B.G.M. Verheij et al. European Journal of Medical Genetics
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- (2008) S. B. Patel et al. NUCLEIC ACIDS RESEARCH
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