Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report
Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
Charcot-Marie-Tooth disease type 2Z is caused by
MORC2
mutations and presents with axonal neuropathy.
MORC2
mutations can also manifest as developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN). We report a patient exhibiting an intermediate phenotype between these diseases associated with a novel
MOR...
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Full title
Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report
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TN_cdi_doaj_primary_oai_doaj_org_article_54b1c44fef794adbb0022bc6f593acb7
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_54b1c44fef794adbb0022bc6f593acb7
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ISSN
2054-345X
E-ISSN
2054-345X
DOI
10.1038/s41439-024-00287-8
