Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrom...
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
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London: BMJ Publishing Group Ltd
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English
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London: BMJ Publishing Group Ltd
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BackgroundDubowitz syndrome (DS) is an autosomal recessive disorder characterized by the constellation of mild microcephaly, growth and mental retardation, eczema and peculiar facies. Over 140 cases have been reported, but the genetic basis is not understood.MethodsWe enrolled a multiplex consanguineous family from the United Arab Emirates with man...
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Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4771841
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4771841
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ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2011-100686
