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Familial short stature: genetic architecture, risk stratification, and precision management [PDF]
Frontiers in EndocrinologyBackgroundFamilial short stature (FSS) has traditionally been considered a benign growth pattern characterized by short stature clustering within families and has often been regarded as a normal variant of growth.
Chang Zhang +5 more
doaj +3 more sources
Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan [PDF]
Scientific Reports, 2017 Human height can be described as a classical and inherited trait model. Genome-wide association studies (GWAS) have revealed susceptible loci and provided insights into the polygenic nature of human height.
Ying-Ju Lin +16 more
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Brachymetacarpia V in familial short stature
Annals of Human Biology, 1997 This study was planned to search for the presence of possible tubular bone abnormalities in familial short stature (FSS) as has been previously noted in some reports. Twenty-five (17 male, 8 female) children with FSS aged 10.0 SD 3.6 years were taken as the study group, and 23 (14 male, 9 female) children of normal stature aged 10.6 SD 2.7 years ...
M, Sükür +5 more
openaire +3 more sources
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
doaj +2 more sources
Indian Journal of Endocrinology and Metabolism, 2012 Short stature can be a sign of disease, disability, and social stigma causing psychological stress. It is important to have an early diagnosis and treatment.
Vikas Chaudhary, Shahina Bano
doaj +2 more sources
Analysis of children with familial short stature: who should be indicated for genetic testing? [PDF]
Endocrine Connections, 2023 Familial short stature (FSS) describes vertically transmitted growth disorders. Traditionally, polygenic inheritance is presumed, but monogenic inheritance seems to occur more frequently than expected.
Lukas Plachy +12 more
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Analysis of Genetic Factors in a Family With Short Stature [PDF]
Molecular Genetics & Genomic MedicineBackground To elucidate the genetic underpinnings of short stature in a familial cohort of five individuals. Methods A family with a history of short stature from Zhongnan Hospital of Wuhan University was the subject of this study.
Siqing Zhang +4 more
doaj +2 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 +3 more sources
The Etiological Spectrum OF Short Stature among Children Attending Endocrine Clinic at Tertiary Care Hospital [PDF]
Liaquat National Journal of Primary CareBackground: One of the most frequent reasons for referral to pediatric endocrinology units is short stature. Children’s short height has a complicated etiology that includes genetics, race, gender, nutrition, and several endocrine hormones.
Hira Urooj Iqbal +3 more
doaj +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