Bardet-Biedl syndrome in two sisters: A rare incidence

被引：0
|
作者：
Varma, Chaitanya [1 ]
Bhat, Ramesh Y. [1 ]
Bhatt, Sonia [1 ]
机构：
[1] Kasturba Med Coll & Hosp, Dept Pediat, Manipal, Karnataka, India
来源：
JOURNAL OF PEDIATRIC GENETICS | 2013年 / 2卷 / 01期
关键词：
Bardet-Biedl; hypogonadism; polydactyly; retinal dystrophy; sibling;
D O I：
10.3233/PGE-13048
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
Bardet-Biedl syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, polydactyly, mental retardation and hypogonadism. We present two sisters with this rare genetic condition.
引用
收藏
页码：49 / 51
页数：3
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