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

页码：2666 / 2669

页数：4

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