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

[Phenotype-genotype relations in growth hormone insensitivity].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Jan 1998

Savage M O, Woods K A, Clark A J, Amselem S

Abstract excerpt

Growth hormone (GH) insensitivity is associated with several different mutations of the GH receptor gene and a recently described new genetic disorder of the IFGI gene. The phenotype and biochemical characteristics were studied in 82 patients with growth hormone insensitivity, from 23 different c...

Topics

Adolescent
Adult
Body Height
Child
Child, Preschool
Female
Gene Deletion
Genetic Heterogeneity
Genotype
Growth Disorders
Growth Hormone
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Insulin-Like Growth Factor Binding Proteins

Insulin-Like Growth Factor I

Male

Mutation

Phenotype

Source

Identifiers

PMID: 9853085
DOI: 10.1016/s0929-693x(99)80192-4

Genes

SDS
IGFBP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9853085-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Phenotype-genotype relations in growth hormone insensitivity].PMID 9853085Read ↗

Phenotype: genotype relationships in growth hormone insensitivity syndrome.Semantic proximity Read ↗

Relationship between phenotype and genotype in growth hormone insensitivity syndrome.Semantic proximity Read ↗

Growth hormone insensitivity: pathophysiology, diagnosis, clinical variation and future perspectives.Semantic proximity Read ↗

[Short stature investigation: clinical, laboratorial and genetic aspects concerning the growth hormone insensitivity (GHI)].Semantic proximity Read ↗

Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.Semantic proximity Read ↗

Growth hormone insensitivity syndromes: lessons learned and opportunities missed.Semantic proximity Read ↗

Update on new GH-IGF axis genetic defects.Semantic proximity Read ↗

Genetics of isolated growth hormone deficiency.Semantic proximity Read ↗

[New molecular mechanisms of growth hormone insensitivity].Semantic proximity Read ↗

Genetic causes of growth hormone insensitivity beyond GHR.Semantic proximity Read ↗

[Growth disorders caused by mutations of GH-1 or GH receptor gene].Semantic proximity Read ↗

Short stature and decreased insulin-like growth factor I (IGF-I)/growth hormone (GH)-ratio in an adult GH-deficient patient pointing to additional partial GH insensitivity due to a R179C mutation of the growth hormone receptor.Semantic proximity Read ↗

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