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

Partial Loss of Function of the GHRH Receptor Leads to Mild Growth Hormone Deficiency.

The Journal of clinical endocrinology and metabolism - 1 Oct 2016

Gregory Louise Cheryl, Alatzoglou Kyriaki Sandy, McCabe Mark James, Hindmarsh Peter Christopher, Saldanha Jose William, Romano Nicola, Le Tissier Paul, Dattani Mehul Tulsidas

Abstract excerpt

OBJECTIVE: Recessive mutations in GHRHR are associated with severe isolated growth hormone deficiency (IGHD), with a final height in untreated patients of 130 cm ± 10 cm (-7.2 ± 1.6 SDS; males) and 114 ± 0.7 cm (-8.3 ± 0.1 SDS; females). DESIGN: We hypothesized that a consanguineous Pakistani family with IGHD in three siblings (two males, one female) would have mutations in GH1 or GHRHR. RESULTS: Two novel...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dwarfism, Pituitary

Share to Mutation, Missense

Share to Pakistan

Share to Pedigree

Share to Receptors, Neuropeptide

Share to Receptors, Pituitary Hormone-Regulating Hormone

Source

Identifiers

PMID: 27501283
DOI: 10.1210/jc.2016-2254

Genes

GHRHR
SDS
GHRH

Variants

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

Partial Loss of Function of the GHRH Receptor Leads to Mild Growth Hormone Deficiency.PMID 27501283Read ↗

A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.Semantic proximity Read ↗

The Dwarfs of Sindh: severe growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene.Semantic proximity Read ↗

Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh.Semantic proximity Read ↗

Identification and functional analysis of first heterozygous frameshift mutation in the GHRH gene in a Chinese boy with isolated growth hormone deficiency.Semantic proximity Read ↗

Diseases associated with growth hormone-releasing hormone receptor (GHRHR) mutations.Semantic proximity Read ↗

Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutationsSemantic proximity Read ↗

Identification of novel GHRHR and GH1 mutations in patients with isolated growth hormone deficiency.Semantic proximity Read ↗

Clinical and Molecular Genetic Analysis of Children with Severe Short Stature due to Isolated Growth Hormone Deficiency: Insights from a South Indian Cohort and Predictors of Growth Response.Semantic proximity Read ↗

Clinical and molecular genetic analysis of children with severe short stature due to isolated growth hormone deficiency: insights from a South Indian cohort and predictors of growth response.Semantic proximity Read ↗

A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiencySemantic proximity Read ↗

Primary Growth Hormone (GH) Insensitivity and Insulin-Like Growth Factor Deficiency Caused by Novel Compound Heterozygous Mutations of the GH Receptor Gene: Genetic and Functional Studies of Simple and Compound Heterozygous StatesSemantic proximity Read ↗

A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome.Semantic proximity Read ↗

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