Short stature due to 15q26 microdeletion involving IGF1R: Report of an additional case and review of the literature

被引：25
|
作者：
Rudaks, Laura I.
Nicholl, Jillian K. [2 ]
Bratkovic, Drago [1 ]
Barnett, Christopher P. [1 ]
机构：
[1] Womens & Childrens Hosp, SA Clin Genet Serv, Metab Unit, Adelaide, SA 5006, Australia
[2] Womens & Childrens Hosp, Cytogenet Unit, Adelaide, SA 5006, Australia
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2011年 / 155A卷 / 12期
关键词：
FACTOR-I RECEPTOR; TERMINAL 15Q26.2-GREATER-THAN-QTER DELETION; DISTAL LONG ARM; RING CHROMOSOME-15; GROWTH-RETARDATION; GIRL; HAPLOINSUFFICIENCY; INTRAUTERINE; FIBROBLASTS; MUTATIONS;
D O I：
10.1002/ajmg.a.34310
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：3139 / 3143
页数：5
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