Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome
Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome
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Publisher
Washington, DC: Endocrine Society
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Language
English
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Publisher
Washington, DC: Endocrine Society
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Context:Pituitary stalk interruption syndrome (PSIS, ORPHA95496) is a congenital defect of the pituitary gland characterized by the triad of a very thin/interrupted pituitary stalk, an ectopic (or absent) posterior pituitary gland, and hypoplasia or aplasia of the anterior pituitary gland. Complex genetic patterns of inheritance of this disorder ar...
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Full title
Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5505202
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5505202
Other Identifiers
ISSN
0021-972X
E-ISSN
1945-7197
DOI
10.1210/jc.2017-00332
