Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis
Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis
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Publisher
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
We clinically and genetically evaluated a Taiwanese boy presenting with developmental delay, organomegaly, hypogammaglobulinemia and hypopigmentation without osteopetrosis. Whole‐exome sequencing revealed a de novo gain‐of‐function variant, p.Tyr715Cys, in the C‐terminal domain of ClC‐7 encoded by CLCN7.
Methods
Nicoli et al. (2...
Alternative Titles
Full title
Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis
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TN_cdi_doaj_primary_oai_doaj_org_article_9d06fb6cc5c045609567437446f84d3c
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9d06fb6cc5c045609567437446f84d3c
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ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.2494
