A genetic approach to evaluation of short stature of undetermined cause
نویسندگان
چکیده
منابع مشابه
Novel 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...
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Skeletal dysplasias (osteochondrodysplasias) are a group of diseases that must be included in the differential diagnosis of disproportionate short stature. History, clinical and radiologic findings and consanguinity are important features to be considered when a specific diagnosis is investigated. Spondyloenchondrodysplasia is a very rare skeletal dysplasia characterized with enchondromas in th...
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ژورنال
عنوان ژورنال: The Lancet Diabetes & Endocrinology
سال: 2018
ISSN: 2213-8587
DOI: 10.1016/s2213-8587(18)30034-2