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Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion i...

Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion i...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_26bceb58cbcb42f3ad1c26abbf894b26

Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B

About this item

Full title

Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B

Publisher

England: BioMed Central Ltd

Journal title

BMC nephrology, 2019-09, Vol.20 (1), p.353-353, Article 353

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

17q12 deletion syndrome encompasses a broad constellation of clinical phenotypes, including renal magnesium wasting, maturity-onset diabetes of the young (MODY), renal cysts, genitourinary malformations, and neuropsychiatric illness. Manifestations outside of the renal, endocrine, and nervous systems have not been well described.
We report a 62-...

Alternative Titles

Full title

Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_26bceb58cbcb42f3ad1c26abbf894b26

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_26bceb58cbcb42f3ad1c26abbf894b26

Other Identifiers

ISSN

1471-2369

E-ISSN

1471-2369

DOI

10.1186/s12882-019-1533-5

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