Two Sibs With Bardet-Biedl Syndrome Due to Mutations in BBS12: No Clues for Modulation by a Third Mutation in BBS10

被引：7
|
作者：
Dulfer, Eelco [1 ]
Hoefsloot, Lies H. [2 ]
Timmer, Albertus [3 ]
Mom, Constantijne [4 ]
van Essen, Anthonie J. [1 ]
机构：
[1] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9711 RB Groningen, Netherlands
[2] Radboud Univ Nijmegen MC, Dept Human Genet, Nijmegen, Netherlands
[3] Univ Groningen, Univ Med Ctr Groningen, Dept Pathol & Med Biol, NL-9713 AV Groningen, Netherlands
[4] Univ Groningen, Univ Med Ctr Groningen, Dept Obstet & Gynaecol, NL-9713 AV Groningen, Netherlands
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2010年 / 152A卷 / 10期
关键词：
MCKUSICK-KAUFMAN-SYNDROME; HYDROMETROCOLPOS; PROTEINS; CRITERIA;
D O I：
10.1002/ajmg.a.33650
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：2666 / 2669
页数：4
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