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

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.

The Journal of clinical endocrinology and metabolism - 1 Feb 2018

Vasques Gabriela A, Funari Mariana F A, Ferreira Frederico M, Aza-Carmona Miriam, Sentchordi-Montané Lucia, Barraza-García Jimena, Lerario Antonio M, Yamamoto Guilherme L, Naslavsky Michel S, Duarte Yeda A O, Bertola Debora R, Heath Karen E, Jorge Alexander A L

Abstract excerpt

Context: Genetic evaluation has been recognized as an important tool to elucidate the causes of growth disorders. Objective: To investigate the cause of short stature and to determine the phenotype of patients with IHH mutations, including the response to recombinant human growth hormone (rhGH) therapy. Patients and Methods: We studied 17 families with autosomal-dominant short stature by using whole exome...

Read the complete abstract on PubMed

Topics

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

Share to Cohort Studies
Share to Dwarfism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Hedgehog Proteins

Share to Hormone Replacement Therapy

Share to Human Growth Hormone

Share to Musculoskeletal Abnormalities

Share to Treatment Outcome

Source

Identifiers

PMID: 29155992
DOI: 10.1210/jc.2017-02026

Genes

IHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.PMID 29155992Read ↗

Short stature with brachydactyly caused by a novel mutation in the IHH gene and response to 4-year growth hormone therapy: a case reportSemantic proximity Read ↗

Identification of Rare Variants in IHH Signaling Pathway-Related Genes Associated with Short StatureSemantic proximity Read ↗

Towards identification of molecular mechanisms of short statureSemantic proximity Read ↗

Genetic causes of isolated short statureSemantic proximity Read ↗

Idiopathic Short Stature: What to Expect from Genomic InvestigationsSemantic proximity Read ↗

Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH.Semantic proximity Read ↗

Molecular diagnosis is an important indicator for response to growth hormone therapy in children with short statureSemantic proximity Read ↗

New developments in the genetic diagnosis of short stature.Semantic proximity Read ↗

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short statureSemantic proximity Read ↗

Diagnostic Challenges of Short Stature and Growth Hormone Insufficiency Across Different Genetic EtiologiesSemantic 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 ↗

Whole Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting GrowthSemantic proximity Read ↗

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