Short Stature, Accelerated Bone Maturation, and Early Growth Cessation Due to Heterozygous Aggrecan Mutations
Author(s) -
Ola Nilsson,
Michael H. Guo,
Nancy Dunbar,
Jadranka Popović,
Daniel Flynn,
Christina M. Jacobsen,
Julian C. Lui,
Joel N. Hirschhorn,
Jeffrey Baron,
Andrew Dauber
Publication year - 2014
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2014-1332
Subject(s) - short stature , idiopathic short stature , frameshift mutation , bone growth , aggrecan , endocrinology , missense mutation , bone age , medicine , genetics , exon , exome sequencing , achondroplasia , mutation , biology , pathology , gene , osteoarthritis , growth hormone , articular cartilage , alternative medicine , hormone
Many children with idiopathic short stature have a delayed bone age. Idiopathic short stature with advanced bone age is far less common.
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