Somatomedin C deficiency in Asian sisters.

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作者信息

McGraw M E, Price D A, Hill D J

出版信息

Arch Dis Child. 1986 Dec;61(12):1233-5. doi: 10.1136/adc.61.12.1233.

DOI:10.1136/adc.61.12.1233

PMID:2434036

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1778201/

Abstract

Two sisters of Asian origin showed typical clinical and biochemical features of primary somatomedin C (SM-C) deficiency (Laron dwarfism). Abnormalities of SM-C binding proteins were observed, one sister lacking the high molecular weight (150 Kd) protein.

摘要