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An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome:...

An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome:...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_2861e3aa6b88487082ea33f23b4dd556

An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome: a case report

About this item

Full title

An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome: a case report

Publisher

London: BioMed Central Ltd

Journal title

BMC pediatrics, 2023-10, Vol.23 (1), p.1-541, Article 541

Language

English

Formats

Publication information

Publisher

London: BioMed Central Ltd

More information

Scope and Contents

Contents

Background Coffin-Lowry syndrome (CLS) is a rare X-linked condition with intellectual disability, growth retardation, characteristic facies and skeletal anomalies. To date, hypertriglyceridemia has not been reported in literature to be associated with CLS. Case Presentation Herein, we report a case of very severe hypertriglyceridemia 32 mmol/L (283...

Alternative Titles

Full title

An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome: a case report

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_2861e3aa6b88487082ea33f23b4dd556

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_2861e3aa6b88487082ea33f23b4dd556

Other Identifiers

ISSN

1471-2431

E-ISSN

1471-2431

DOI

10.1186/s12887-023-04376-5

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