Genetic Architecture Associated With Familial Short Stature
نویسندگان
چکیده
منابع مشابه
The Genetic Architecture of Barley Plant Stature
Plant stature in temperate cereals is predominantly controlled by tillering and plant height as complex agronomic traits, representing important determinants of grain yield. This study was designed to reveal the genetic basis of tillering at five developmental stages and plant height at harvest in 218 worldwide spring barley (Hordeum vulgare L.) accessions under greenhouse conditions. The acces...
متن کاملSyndromes with short stature
At present, factors that have been recognized as being able to influence growth are: nutritional, physical, chemical, psychological and genetic. The causes of short stature are numerous, with about 90% of cases classified as Idiopathic Short Stature and divided into 2 types familial short stature and constitutional short stature. Part of the population with growth disorders are SGA newborns (10...
متن کاملNovel genetic cause of idiopathic short stature
Traditionally, the growth hormone - insulin-like growth factor I (GH - IGF-I) axis is the most important signaling pathway in linear growth, and defects in this axis present as growth hormone deficiencies or IGF-I deficiencies. However, subtle changes in serum levels of GH or IGF-I, caused by gene mutations involved in the GH - IGF-I axis, can present as idiopathic short stature (ISS). This pap...
متن کاملACAN mutations as a cause of familial short stature
Aggrecan, encoded by ACAN, is a major proteoglycan component of the extracellular matrix in the growth plate and articular cartilage. Aggrecan provides the hydrated gel structure important for the load-bearing properties of joints and plays a key role in cartilage and bone morphogenesis. At least 25 pathological ACAN mutations have been identified in patients with highly variable phenotypes of ...
متن کاملA simple chart to identify non-familial short stature.
OBJECTIVE To develop a chart to identify non-familial short stature. DESIGN A height chart that adjusts for maternal, paternal, midparental, or sibling height based on the British 1990 height reference. MAIN OUTCOME MEASURE Height between 2 and 9 years of age. RESULTS The chart identifies children whose height is below the familially adjusted 0.4th centile, assuming a correlation of 0.4 b...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2020
ISSN: 0021-972X,1945-7197
DOI: 10.1210/clinem/dgaa131