Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation
Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation
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Basel: MDPI AG
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Language
English
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Basel: MDPI AG
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Contents
Rare diseases represent a diagnostic challenge due to their number, variety of clinical phenomena, and possibility of a simultaneous presence of two or more diseases. An illustration of this challenge is an occurrence of a late diagnosis of a proband initially diagnosed with West syndrome, later revealed to be caused by Incontinentia pigmenti (IP)....
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Full title
Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation
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TN_cdi_doaj_primary_oai_doaj_org_article_995e8b2ab52341f284c9c159dd9bb147
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_995e8b2ab52341f284c9c159dd9bb147
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ISSN
2075-4418
E-ISSN
2075-4418
DOI
10.3390/diagnostics12071711
