Idiopathic short stature [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2013 Growth is a complex process and the basic characteristic of child- hood growth monitoring provides insight into the physiological and pathological events in the body.
Vlaški Jovan +5 more
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Idiopathic Short Stature: What to Expect from Genomic Investigations
Endocrines, 2023 Short stature is a common concern for physicians caring for children. In traditional investigations, about 70% of children are healthy, without producing clinical and laboratory findings that justify their growth disorder, being classified as having ...
Nathalia Liberatoscioli Menezes Andrade +4 more
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Managing idiopathic short stature: role of somatropin (rDNA origin) for injection
Biologics: Targets & Therapy, 2010 J Paul Frindik1, Stephen F Kemp11University of Arkansas for Medical Sciences and Arkansas Children’s Hospital, AR, USAAbstract: Idiopathic short stature (ISS) is a term that describes short stature in children who do not have growth hormone (GH)
J Paul Frindik, Stephen F Kemp
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SHOX Deletion and Idiopathic Short Stature: What Does the Clinician Need to Know? Case Series Report
Diagnostics, 2022 Children diagnosticated with idiopathic short stature (ISS) are probably, in most cases, underdiagnosticated. The genetic causes of ISS may be mutations of genes involved in local regulation of the growth plate or genes involved in the GH-IGF1 axis ...
Maria-Christina Ungureanu +6 more
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A polygenic score for height identifies an unmeasured genetic predisposition among pediatric patients with idiopathic short stature [PDF]
Genome MedicineBackground A subset of children with short stature do not have an identified clinical explanation after extensive diagnostic evaluation. We hypothesized that a polygenic score for height (PGSheight) could identify children with non-familial idiopathic ...
John P. Shelley +5 more
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Case analysis and literature review of 3 children with short stature with ACAN gene mutation [PDF]
Zhenduanxue lilun yu shijian, 2023 Objective: To analyze the clinical features and genetic changes of 3 children in short stature with ACAN gene mutation. Methods: The clinical data, laboratory examinations, and genetic testing results of 3 children with ACAN gene mutations diagnosed with
LI Yanxiao, LU Wenli, WANG Xinqiong, CHEN Ye, XIAO Yuan, DONG Zhiya, MA Xiaoyu
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Involvement of the vitamin D receptor gene in the development of idiopathic short stature
Mìžnarodnij Endokrinologìčnij Žurnal, 2023 Background. The vitamin D receptor (VDR) gene is localized in the chromosome 12 (region 12q13). Its polymorphic variants BsmI and FokI are the most promising in clinical and diagnostic terms.
O.V. Bolshova +2 more
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Prevalence and Aetiological Profile of Short Stature in School Children between 6-11 Years of Age- A Community Based Prospective Observational Study [PDF]
Journal of Clinical and Diagnostic Research, 2023 Introduction: Growth is a complex process and influenced by genetic back ground, different functions of endocrine system, nutrition, effect of any chronic disease and the level of individual physical activity.
Jasmine Kandagal +3 more
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Serum Metabonomics Reveals Key Metabolites in Different Types of Childhood Short Stature
Frontiers in Pharmacology, 2022 Graphical AbstractSS, short stature; SDS, standard deviation scores; Control, normal height, n=30; ISS, idiopathic short stature n=31; GHD, short stature caused by growth hormone deficiency, n=29.
Guoyou Chen +10 more
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A new era of genetic diagnosis for short stature children: A review [PDF]
Precision and Future Medicine, 2022 Children with short stature are often presented to pediatric endocrinologists. Short stature is defined as the height that is more than two standard deviations below the corresponding mean height for a specific age and sex in a reference population ...
Yoo-Mi Kim
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