Results 11 to 20 of about 228,760 (347)
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 +4 more sources
Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature [PDF]
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 +4 more sources
Deciphering short stature in children [PDF]
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 +6 more sources
Short Stature Diagnosis and Referral [PDF]
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
doaj +7 more sources
Etiologies and characteristics of children with chief complaint of short stature [PDF]
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
Genetic syndromes and skeletal dysplasia associated with short stature – A case series
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
Genetics of Short Stature [PDF]
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
Jeffrey Baron+3 more
openaire +3 more sources
Maternal short stature does not predict their children's fatness indicators in a nutritional dual-burden sample of urban Mexican Maya. [PDF]
The co-existence of very short stature due to poor chronic environment in early life and obesity is becoming a public health concern in rapidly transitioning populations with high levels of poverty.
Bogin, B+5 more
core +1 more source
Whole exome sequencing to identify genetic causes of short stature [PDF]
BACKGROUND/AIMS: Short stature is a common reason for presentation to pediatric endocrinology clinics. However, for most patients, no cause for the short stature can be identified.
Dauber, Andrew+6 more
core +1 more source