Genetics of Short Stature

被引：38

作者：

Jee, Youn Hee ^{[1
]}

Andrade, Anenisia C. ^{[2
]}

Baron, Jeffrey ^{[1
]}

Nilsson, Ola ^{[2
,3
]}

机构：

[1] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Program Dev Endocrinol & Genet, NIH, CRC, Room 1-3330,10 Ctr Dr MSC 1103, Bethesda, MD 20892 USA

[2] Karolinska Inst, Karolinska Univ Hosp, Dept Womens & Childrens Hlth, Div Pediat Endocrinol, S-17177 Solna, Sweden

[3] Orebro Univ, Univ Hosp, S-70185 Orebro, Sweden

来源：

ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA | 2017年 / 46卷 / 02期

基金：

瑞典研究理事会;

关键词：

Short stature; Genetic causes; Growth plate; Genome-wide association study; Exome sequencing; MULTIPLE EPIPHYSEAL DYSPLASIA; FLOATING-HARBOR SYNDROME; GILFORD PROGERIA SYNDROME; DOMINANT ROBINOW SYNDROME; GROWTH-FACTOR RECEPTOR-3; AARSKOG-SCOTT-SYNDROME; COFFIN-SIRIS SYNDROME; BRACHYDACTYLY TYPE A2; DE-LANGE-SYNDROME; PRIMORDIAL DWARFISM;

D O I：

10.1016/j.ecl.2017.01.001

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Short stature is a common and heterogeneous condition that is often genetic in etiology. For most children with genetic short stature, the specific molecular causes remain unknown; but with advances in exome/genome sequencing and bioinformatics approaches, new genetic causes of growth disorders have been identified, contributing to the understanding of the underlying molecular mechanisms of longitudinal bone growth and growth failure. Identifying new genetic causes of growth disorders has the potential to improve diagnosis, prognostic accuracy, and individualized management, and help avoid unnecessary testing for endocrine and other disorders.

引用

页码：259 / +

页数：24

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