Delayed diagnosis of proopiomelanocortin (POMC) deficiency with type 1 diabetes in a 9-year-old girl...
Delayed diagnosis of proopiomelanocortin (POMC) deficiency with type 1 diabetes in a 9-year-old girl and her infant sibling
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Publisher
Germany: De Gruyter
Journal title
Language
English
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Publisher
Germany: De Gruyter
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Scope and Contents
Contents
Proopiomelanocortin (POMC) protein, encoded by the POMC gene, is the precursor of adrenocorticotropic hormone (ACTH) that is released from the anterior pituitary gland. Homozygous mutations in the POMC gene is associated with hyperphagia, severe and early-onset obesity, adrenal insufficiency, hypopigmentation of the skin and red hair.
A 9-year-o...
Alternative Titles
Full title
Delayed diagnosis of proopiomelanocortin (POMC) deficiency with type 1 diabetes in a 9-year-old girl and her infant sibling
Authors, Artists and Contributors
Author / Creator
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Record Identifier
TN_cdi_proquest_journals_1953067574
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1953067574
Other Identifiers
ISSN
0334-018X
E-ISSN
2191-0251
DOI
10.1515/jpem-2017-0064
