Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Pituitary stalk interruption syndrome due to novel ROBO1 mutation presenting as combined pituitary hormone deficiency and central diabetes insipidus.

Journal of pediatric endocrinology & metabolism : JPEM - 27 May 2024

Misgar Raiz Ahmad, Chhabra Ankit, Qadir Ajaz, Arora Sidharth, Wani Arshad Iqbal, Bashir Mir Iftikhar, Masoodi Shariq Rashid

Abstract excerpt

OBJECTIVES: The genetic causes of pituitary stalk interruption syndrome (PSIS) remain elusive in 95 % of cases. The roundabout receptor-1 gene (ROBO1) plays critical roles in axonal guidance and cell migration. Recently, mutations in the ROBO1 gene have been reported patients with PSIS. CASE PRESENTATION: We report a 2.9-year-old boy with PSIS who presented with combined pituitary hormone deficiency, central...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Hypopituitarism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Nerve Tissue Proteins

Share to Pituitary Gland

Share to Prognosis

Share to Receptors, Immunologic

Share to Roundabout Proteins

Source

Identifiers

PMID: 38444307
DOI: 10.1515/jpem-2023-0541

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pituitary stalk interruption syndrome due to novel ROBO1 mutation presenting as combined pituitary hormone deficiency and central diabetes insipidus.PMID 38444307Read ↗

A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption SyndromeSemantic proximity Read ↗

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

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

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

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

Pituitary stalk interruption syndrome: cause, clinical manifestations, diagnosis, and management.Semantic proximity Read ↗

Whole-exome sequencing identifies homozygous GPR161 mutation in a family with 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 Tumors: Genetic and Molecular Factors Underlying Pathogenesis and Clinical BehaviorSemantic proximity Read ↗

DIAGNOSIS OF ENDOCRINE DISEASE: Pituitary stalk interruption syndrome: etiology and clinical manifestationsSemantic proximity Read ↗

Update on the Genetics of Pituitary Tumors.Semantic proximity Read ↗

Re-analysis of gene mutations found in pituitary stalk interruption syndrome and a new hypothesis on the etiology.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.