Abstract:
:We report the clinical and neuroradiological findings in a young boy harboring the 9p deletion syndrome including the novel findings of thalamic infarction and germinal matrix haemorrhage and neonatal hyperinsulinemic hypoglycemia. Both the hypoglycemic events and the ventriculomegaly found in this patient have previously only been reported in two patients, while the thalamic infarction and germinal matrix haemorrhage are novel features.
journal_name
Eur J Med Genetjournal_title
European journal of medical geneticsauthors
Bayat A,Kirchhoff M,Madsen CG,Kreiborg Sdoi
10.1016/j.ejmg.2018.03.009subject
Has Abstractpub_date
2018-08-01 00:00:00pages
473-477issue
8eissn
1769-7212issn
1878-0849pii
S1769-7212(17)30816-9journal_volume
61pub_type
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journal_title:European journal of medical genetics
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journal_title:European journal of medical genetics
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journal_title:European journal of medical genetics
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journal_title:European journal of medical genetics
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journal_title:European journal of medical genetics
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journal_title:European journal of medical genetics
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doi:10.1016/j.ejmg.2010.10.006
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journal_title:European journal of medical genetics
pub_type: 杂志文章
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journal_title:European journal of medical genetics
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journal_title:European journal of medical genetics
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journal_title:European journal of medical genetics
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journal_title:European journal of medical genetics
pub_type: 杂志文章
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更新日期:2018-06-01 00:00:00