Monogenic causes of familial short stature [PDF]
Frontiers in EndocrinologyGenetic factors play a crucial role in determining human height. Short stature commonly affects multiple family members and therefore, familial short stature (FSS) represents a significant proportion of growth disorders. Traditionally, FSS was considered
Lukas Plachy +6 more
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Vitamin K2 deficiency associated with short stature in children: a cross-sectional study [PDF]
BMC PediatricsBackground Short stature in children is a common concern that can result from various underlying conditions. While factors such as growth hormone deficiency and nutritional deficiencies are well-known contributors, the role of vitamin K2 (VK2) in the ...
Yanjie Shen +4 more
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Association Between Vitamin D Levels and Developmental Status in Short-Stature Children [PDF]
ChildrenBackground: The first two years of life are crucial for child growth and development, and short stature is a common issue influenced by nutritional deficiencies. This study aimed to determine the relationship between vitamin D levels and short stature in
Mia Milanti Dewi +5 more
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Prevalence and predictors of short stature in children aged 3–18 years in Hainan Province, China: a cross-sectional study [PDF]
Frontiers in PediatricsBackgroundShort stature is a global health-related problem and remains to be evaluated in children in Hainan Province. The present study was conducted to investigate the associated factors with short-stature in children.MethodsThis cross-sectional study ...
Mi Yan +12 more
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Molecular diagnosis of patients with syndromic short stature identified by trio whole-exome sequencing [PDF]
Frontiers in GeneticsBackgroundShort stature is a complex disorder with phenotypic and genetic heterogeneity. This study aimed to investigate clinical phenotypes and molecular basis of a cohort of patients with short stature.MethodsTrio whole-exome sequencing (Trio-WES) was ...
Huihui Sun +3 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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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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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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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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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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