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Article

Short stature due to 15q26 microdeletion involving IGF1R: report of an additional case and review of the literature.

American journal of medical genetics. Part A - 1 Dec 2011

Rudaks Laura I, Nicholl Jillian K, Bratkovic Drago, Barnett Christopher P

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Share to Child, Preschool
Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 15
Share to Dwarfism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptor, IGF Type 1

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Identifiers

PMID: 22065603
DOI: 10.1002/ajmg.a.34310

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Short stature due to 15q26 microdeletion involving IGF1R: report of an additional case and review of the literature.PMID 22065603Read ↗

[Short stature with abnormal IGF I/IGF-I receptor system].Semantic proximity Read ↗

Familial short stature is associated with a novel dominant-negative heterozygous insulin-like growth factor 1 receptor (IGF1R) mutation.Semantic proximity Read ↗

A Novel Deletion of IGF1 in a Patient With Idiopathic Short Stature Provides Insight Into IGF1 HaploinsufficiencySemantic proximity Read ↗

Phenotype-genotype correlation in a familial IGF1R microdeletion case.Semantic proximity Read ↗

Genetic IGF1R defects: new cases expand the spectrum of clinical features.Semantic proximity Read ↗

A 15q25.2 microdeletion phenotype for premature ovarian failure in a Chinese girl: a case report and review of literature.Semantic proximity Read ↗

15q26 Deletion in a Patient with Congenital Heart Defect, Growth Restriction and Intellectual Disability: Case Report and Literature ReviewSemantic proximity Read ↗

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.Semantic proximity Read ↗

15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity.Semantic proximity Read ↗

Familial short stature with IGF-I receptor gene anomaly [Review]Semantic proximity Read ↗

Endocrinological anomalies in a patient with 12q14 microdeletion syndrome. Completing phenotype of this exceptional short stature condition.Semantic proximity Read ↗

Familial short stature and intrauterine growth retardation associated with a novel mutation in the IGF-I receptor (IGF1R) gene.Semantic proximity Read ↗

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