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

A novel splicing mutation in exon 4 (456G>A) of the GH1 gene in a patient with congenital isolated growth hormone deficiency.

Hormones (Athens, Greece) - 1 Jan 2000

Fofanova Olga V, Evgrafov Oleg V, Polyakov Alexander V, Peterkova Valentina A, Dedov Ivan I

Abstract excerpt

Isolated Growth Hormone Deficiency (IGHD) due to GH1 gene defects has a variable inheritance pattern: autosomal recessive, autosomal dominant, and X-linked. the autosomal dominantly inherited form, IGHD II, is mainly caused by heterozygous mutations of splicing around the exon 3/IVs3 boundary reg...

Read the complete abstract on PubMed

Topics

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

Share to DNA
Share to Dwarfism, Pituitary
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Growth Hormone

Share to Heterozygote

Share to Pedigree

Share to RNA Splice Sites

Source

Identifiers

PMID: 17178704
DOI: 10.14310/horm.2002.11194

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17178704-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel splicing mutation in exon 4 (456G>A) of the GH1 gene in a patient with congenital isolated growth hormone deficiency.PMID 17178704Read ↗

GH-1 gene splicing mutations: molecular basis of hereditary isolated growth hormone deficiency in children.Semantic proximity Read ↗

A novel and de novo splice-donor site mutation in intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency.Semantic proximity Read ↗

Splice site mutations in GH1 detected in previously (Genetically) undiagnosed families with congenital isolated growth hormone deficiency type II.Semantic proximity Read ↗

Mutations in GH1 gene and isolated growth hormone deficiency (IGHD): A familial case of IGHD type I and systematic review.Semantic proximity Read ↗

Novel mutations in the GH gene (GH1) uncover putative splicing regulatory elements.Semantic proximity Read ↗

Isolated GH deficiency with dominant inheritance: new mutations, new insights.Semantic proximity Read ↗

Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function.Semantic proximity Read ↗

Isolated growth hormone deficiency due to the R183H mutation in GH1: Clinical analysis of a four-generation family.Semantic proximity Read ↗

Two different 5' splice site mutations in the growth hormone gene causing autosomal dominant growth hormone deficiency.Semantic proximity Read ↗

Genetic variations, clinical presentation and treatment outcome of isolated growth hormone deficiency type I and II: case series and review of the literatureSemantic proximity Read ↗

A case with isolated growth hormone deficiency caused by compound heterozygous mutations in GH-1: a novel missense mutation in the initiation codon and a 7.6kb deletion.Semantic proximity Read ↗

Isolated growth hormone deficiency in two siblings because of paternal mosaicism for a mutation in the GH1 gene.Semantic proximity Read ↗

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