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

Heterozygous mutation of HESX1 causing hypopituitarism and multiple anatomical malformations without features of septo-optic dysplasia.

Journal of endocrinological investigation - 1 Aug 2008

Corneli G, Vivenza D, Prodam F, Di Dio G, Vottero A, Rapa A, Bellone S, Bernasconi S, Bona G

Abstract excerpt

Isolated GH deficiency or combined pituitary hormone deficiencies have been associated with mutations in transcription factors encoding genes that control organogenesis or cell differentiation. Among these factors, Hesx1 is essential for the development of the optic nerve and regulates some of the earliest stages in pituitary development and is intimately involved in orchestrating the expression of other factors...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Congenital Abnormalities

Share to DNA Mutational Analysis

Share to Heterozygote

Share to Homeodomain Proteins

Share to Hypopituitarism

Share to Point Mutation

Source

Identifiers

PMID: 18852528
DOI: 10.1007/BF03346416

Genes

HESX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Heterozygous mutation of HESX1 causing hypopituitarism and multiple anatomical malformations without features of septo-optic dysplasia.PMID 18852528Read ↗

HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.Semantic proximity Read ↗

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.Semantic proximity Read ↗

Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.Semantic proximity Read ↗

Hypopituitarism oddities: congenital causes.Semantic proximity Read ↗

A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes.Semantic proximity Read ↗

Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities.Semantic proximity Read ↗

A case of growth hormone and gonadotropin deficiency associated with unilateral anophthalmia, microphallus, cryptorchidism, and mental retardation.Semantic proximity Read ↗

Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.Semantic proximity Read ↗

Pituitary Hypoplasia.Semantic proximity Read ↗

Sporadic Heterozygous Frameshift Mutation of<i>HESX1</i>Causing Pituitary and Optic Nerve Hypoplasia and Combined Pituitary Hormone Deficiency in a Japanese PatientSemantic proximity Read ↗

Heritable disorders of pituitary development.Semantic proximity Read ↗

Genetic causes of isolated and combined pituitary hormone deficiency.Semantic proximity Read ↗

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