Article
[Analysis of clinical manifestations and genetic mutations in a child with Laron syndrome].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Dec 2013
Chang Guo-ying, Chen Shao-ke, Gu Xue-fan, Gong Zhu-wen, Zhang Qi-gang
Abstract excerpt
OBJECTIVE: To analyze clinical manifestations and gene mutations in a child with severe short stature, explore its molecular mechanism and further clarify the diagnostic procedure for short stature. METHOD: We observed clinical characteristics of a patient with short stature and did diagnostic examinations, assessed the function of GH-IGF-1 axis, and surveyed its family members.Genomic DNA was extracted from...
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