TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability

被引：8

作者：

Sidler, Jan A. ^{[1
,2
]}

Filges, Isabel ^{[1
,2
]}

Boesch, Nemya ^{[1
,2
]}

Ramelli, Gian Paolo ^{[4
,5
]}

Roethlisberger, Benno ^{[6
]}

Huber, Andreas R. ^{[6
]}

Tercanli, Sevgi ^{[3
]}

Bronz, Lucio ^{[4
,5
]}

Miny, Peter ^{[1
,2
]}

Heinimann, Karl ^{[1
,2
]}

机构：

[1] Univ Childrens Hosp Basel, Div Med Genet, Res Grp Human Genet, Basel, Switzerland

[2] Univ Basel, Dept Biomed, Basel, Switzerland

[3] Univ Basel Hosp, Dept Obstet & Gynecol, CH-4031 Basel, Switzerland

[4] Mendrisio Hosp, Dept Pediat, Bellinzona, Switzerland

[5] Bellinzona Hosp, Dept Pediat, Bellinzona, Switzerland

[6] Cantonal Hosp, Ctr Lab Med, Aarau, Switzerland

来源：

CLINICAL DYSMORPHOLOGY | 2012年 / 21卷 / 02期

关键词：

SYRINGOMYELIA; GENE;

D O I：

10.1097/MCD.0b013e32834e9248

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：87 / 90

页数：4

共 5 条

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[5] Missense mutation in exon 7 of TRPS1 gene in an Italian family with a mild form of trichorhinophalangeal syndrome type I [J].

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