Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation
نویسندگان
چکیده
منابع مشابه
Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation
Aggrecan, a proteoglycan, is an important component of cartilage extracellular matrix, including that of the growth plate. Heterozygous mutations in ACAN, the gene encoding aggrecan, cause autosomal dominant short stature, accelerated skeletal maturation, and joint disease. The inheritance pattern and the presence of bone age equal to or greater than chronological age have been consistent featu...
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Accurate serial measurements of height and weight and an accurate record of growth are essential cornponents of the clinical evaluation of all children. Maintenance of a growth chart allows comparison of an individual child with a large population in terms of both percentile ranking and the determination of ‘ ‘ height age’ ‘ : the chronologic age at which the patient’s height falls on the 50th ...
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ژورنال
عنوان ژورنال: Journal of the Endocrine Society
سال: 2017
ISSN: 2472-1972
DOI: 10.1210/js.2017-00229