Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation

Tatsi, C; Gkourogianni, A; Mohnike, K; DeArment, D; Witchel, S; Andrade, AC; Markello, TC; Baron, J; Nilsson, O; Jee, YH

Baron, J (reprint author), NICHD, NIH, NIH Clin Res Ctr, 10 Ctr Dr,Bldg 10,Room 1-3330,MSC1103, Bethesda, MD 20892 USA.

JOURNAL OF THE ENDOCRINE SOCIETY, 2017; 1 (8): 1006

Abstract

Aggrecan, a proteoglycan, is an important component of cartilage extracellular matrix, including that of the growth plate. Heterozygous mutations in A......

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