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Article

Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.

The Journal of clinical endocrinology and metabolism - 1 Jul 2017

McCormack Shana E, Li Dong, Kim Yeon Joo, Lee Ji Young, Kim Soo-Hyun, Rapaport Robert, Levine Michael A

Abstract excerpt

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 are increasingly recognized. Objective: The objective of this study...

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Source

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Identifiers

PMID: 28453858
DOI: 10.1210/jc.2017-00332
PMCID: PMC5505202

Genes

PROKR2
EMX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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