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Article

Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome.

The Journal of clinical endocrinology and metabolism - 1 Jul 2017

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

Abstract excerpt

Context: Pituitary stalk interruption syndrome (PSIS) is characterized by a thin or absent pituitary stalk usually in association with an ectopic posterior pituitary and hypoplasia/aplasia of the anterior pituitary. Associated phenotypes include varied ocular anomalies, hypoglycemia, micropenis/cryptorchidism, growth failure, or combined pituitary hormone deficiencies. Although genetic causes have been...

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Source

Identifiers

PMID: 28402530
DOI: 10.1210/jc.2016-1095

Genes

ROBO1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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