Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of over...
Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
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United States: John Wiley & Sons, Inc
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Language
English
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Publisher
United States: John Wiley & Sons, Inc
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Background
Loss of function variants and whole gene deletions of ZNF462 has been associated with a novel phenotype of developmental delay/intellectual disability and distinctive facial features. Over two dozen cases have been reported to date and the condition is now known as Weiss‐Kruszka syndrome (OMIM# 618619). There are several older reports...
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Full title
Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
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TN_cdi_doaj_primary_oai_doaj_org_article_017130a3b56541a2b79f86ade0bd3992
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_017130a3b56541a2b79f86ade0bd3992
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ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.2116
