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Article

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.

PloS one - 1 Jan 2020

Brauner Raja, Bignon-Topalovic Joelle, Bashamboo Anu, McElreavey Ken

Abstract excerpt

Pituitary stalk interruption syndrome is a rare disorder characterized by an absent or ectopic posterior pituitary, interrupted pituitary stalk and anterior pituitary hypoplasia, as well as in some cases, a range of heterogeneous somatic anomalies. A genetic cause is identified in only around 5% of all cases. Here, we define the genetic variants associated with PSIS followed by the same pediatric endocrinologist....

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Identifiers

PMID: 33270637
DOI: 10.1371/journal.pone.0242358
PMCID: PMC7714207

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