Results 11 to 20 of about 4,480,801 (360)
Short Stature Diagnosis and Referral
Frontiers in Endocrinology, 2018 The “360° GH in Europe” meeting, which examined various aspects of GH diseases, was held in Lisbon, Portugal, in June 2016. The Merck KGaA (Germany) funded meeting comprised three sessions entitled “Short Stature Diagnosis and Referral,” “Optimizing ...
Mohamad Maghnie +3 more
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Pediatría IntegralShort stature is a very common cause of referral. There are many causes of growth failure, but the great majority of cases are due to normal variants and only in a minority of cases an underlying disease is found. Pathological growth failure includes the consideration not only of short stature, but also growth velocity, genetic height and estimation of
Sharma L, Rani D, Kanchan T, Krishan K.
europepmc +2 more sources
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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Journal of Clinical Endocrinology and Metabolism, 2021 Context Aggrecan, encoded by the ACAN gene, is the main proteoglycan component in the extracellular cartilage matrix. Heterozygous mutations in ACAN have been reported to cause idiopathic short stature. However, the prevalence of ACAN pathogenic variants
Li Lin +20 more
semanticscholar +1 more source
Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature
Journal of Clinical Endocrinology and Metabolism, 2021 Context Data and studies based on exome sequencing for the genetic evaluation of short stature are limited, and more large-scale studies are warranted.
Xin Li +14 more
semanticscholar +1 more source
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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Genetic evaluation in children with short stature
Current opinion in pediatrics, 2021 Purpose of review Short stature is a common clinical manifestation in children. Yet, a cause is often unidentifiable in the majority of children with short stature by a routine screening approach.
Elaine Zhou, Benjamin R. Hauser, Y. Jee
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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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Etiologies and characteristics of children with chief complaint of short stature [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2015 PurposeShort stature is a very common reason for visits to pediatric endocrine clinics. It could be the first sign of an underlying disease. The purpose of this study is to investigate the etiologies and general characteristics of subjects who visited an
Kyung Chul Song +6 more
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