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Article

Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.

The Journal of clinical endocrinology and metabolism - 1 Jan 2015

Karaca Ender, Buyukkaya Ramazan, Pehlivan Davut, Charng Wu-Lin, Yaykasli Kursat O, Bayram Yavuz, Gambin Tomasz, Withers Marjorie, Atik Mehmed M, Arslanoglu Ilknur, Bolu Semih, Erdin Serkan, Buyukkaya Ayla, Yaykasli Emine, Jhangiani Shalini N, Muzny Donna M, Gibbs Richard A, Lupski James R

Abstract excerpt

CONTEXT: Pituitary stalk interruption syndrome (PSIS) is a rare, congenital anomaly of the pituitary gland characterized by pituitary gland insufficiency, thin or discontinuous pituitary stalk, anterior pituitary hypoplasia, and ectopic positioning of the posterior pituitary gland (neurohypophysi...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25322266
DOI: 10.1210/jc.2014-1984
PMCID: PMC4283017

Genes

HESX1
LHX4
OTX2
PROKR2
SOX3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25322266-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.PMID 25322266Read ↗

Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric studySemantic proximity Read ↗

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.Semantic proximity Read ↗

Identification of novel candidate pathogenic genes in pituitary stalk interruption syndrome by whole-exome sequencing.Semantic proximity Read ↗

Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome.Semantic proximity Read ↗

Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.Semantic proximity Read ↗

Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.Semantic proximity Read ↗

Pituitary Stalk Interruption Syndrome: From Clinical Findings to Pathogenesis.Semantic proximity Read ↗

Multi-genic pattern found in rare type of hypopituitarism: a whole-exome sequencing study of Han Chinese with pituitary stalk interruption syndrome.Semantic proximity Read ↗

Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency.Semantic proximity Read ↗

PROKR2 Variants in Multiple Hypopituitarism with Pituitary Stalk InterruptionSemantic proximity Read ↗

Whole exome sequencing in children with rare endocrine disordersSemantic proximity Read ↗

Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes.Semantic proximity Read ↗

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