Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult man...
Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Contents
Genetic alterations in COL4A2 are less common than those of COL4A1 and their fetal phenotype has not been described to date. We describe a three-generation family with an intragenic deletion in COL4A2 associated with a prenatal diagnosis of recurrent fetal intracerebral hemorrhage (ICH), and a myriad of cerebrovascular manifestations. Exome sequenc...
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Full title
Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations
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TN_cdi_proquest_journals_2590780172
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2590780172
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ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-021-00880-3
