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Genetics of Short Stature [PDF]
Endocrinology and Metabolism Clinics of North America, 2017 Short stature is a common and heterogeneous condition that is often genetic in etiology. For most children with genetic short stature, the specific molecular causes remain unknown; but with advances in exome/genome sequencing and bioinformatics approaches, new genetic causes of growth disorders have been identified, contributing to the understanding of
Youn Hee, Jee +3 more
openaire +3 more sources
Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature [PDF]
Case Reports in Endocrinology, 2017 Deficiency of the short stature homeobox-containing (SHOX) gene is a frequent cause of short stature in children (2–15%). Here, we report 7 siblings with SHOX deficiency due to a point mutation in the SHOX gene.
Elizabeth S. Sandberg +3 more
doaj +2 more sources
Deciphering short stature in children [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2020 Short stature is a common reason for referral to pediatric endocrinologists. Multiple factors, including genetic, prenatal, postnatal, and local environmental factors, can impair growth.
Nella Polidori +3 more
doaj +2 more sources
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
doaj +2 more sources
Leri-Weill dyschondrosteosis: An under-recognised cause of short stature
South African Journal of Radiology, 2009 Short stature is a frequent presenting problem in the pediatric population. Various causes including endocrinopathies, skeletal dysplasias, dysmorphic syndromes and malabsorption have been implicated.
E G Lemire, S Wiebe
doaj +3 more sources
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
doaj +1 more source
Definition and prevalence of familial short stature [PDF]
, 2021 Objective: To verify the prevalence of novel definitions of familial short stature on a cross-sectional cohort of children referred for short stature when their height and that of both parents were measured.
Occhipinti A. A. +5 more
core +2 more sources
Genetic syndromes and skeletal dysplasia associated with short stature – A case series
Apollo Medicine, 2023 Introduction: Stature has a very high heritability index of about 80%. There are multiple genes which regulate the chondrogenesis at the growth plate. It is but natural that mutations or defects involving these genes lead to normal variant short stature ...
Divya Agarwal +3 more
doaj +1 more source
A study of short stature among adolescents in the rural tertiary center- A prospective observational study [PDF]
Al Ameen Journal of Medical Sciences, 2021 Background: Long-term morbidities during the adolescence period cause short stature which is permanent, once epiphysis fuse. Objectives: To evaluate etiology in short stature adolescents and its relation with HSDS (Height Standard Deviation Score) and BA
Dixa Shah +5 more
doaj
Short stature and SHOX (Short stature homeobox) variants—efficacy of screening using various strategies [PDF]
PeerJ, 2020 Background SHOX mutations have previously been described as causes of Léri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia (LMD), and idiopathic short stature. The loss of X chromosome—Turner syndrome or mosaic 45,X/46,XX or 46,XY—also leads to
Pavlina Capkova +4 more
doaj +2 more sources