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Article

Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study

14 Dec 2023

Abstract excerpt

Pituitary stalk interruption syndrome (PSIS) is a rare disorder characterized by an absent or ectopic posterior pituitary, absent or interrupted pituitary stalk and anterior pituitary hypoplasia on magnetic resonance imaging (MRI), as well in some cases a range of heterogeneous somatic anomalies. The triad can be incomplete. Here, we performed exome sequencing on 16 sporadic patients, aged 0.4 to 13.7 years...

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PMID: 38096238
DOI: 10.1371/journal.pone.0292664

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