The homozygous deletion of the 3′ enhancer of the SHOX gene causes Langer mesomelic dysplasia

被引：19

作者：

Bertorelli, R.

Capone, L.

Ambrosetti, F.

Garavelli, L.

Varriale, L.

Mazza, V.

Stanghellini, I.

Percesepe, A.

Forabosco, A.

机构：

[1] Univ Modena, Dept Med Genet, I-41100 Modena, Italy

[2] Santa Maria Nuova Hosp, Dept Pathol, I-41100 Reggio Emilia, Italy

[3] Santa Maria Nuova Hosp, Dept Pediat & Clin Genet, I-41100 Reggio Emilia, Italy

[4] Univ Modena, Dept Obstet & Gynecol, I-41100 Modena, Italy

来源：

CLINICAL GENETICS | 2007年 / 72卷 / 05期

关键词：

D O I：

10.1111/j.1399-0004.2007.00875.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：490 / 491

页数：2

共 7 条

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[5] Microdeletion in the SHOX 3′ region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother:: Implication for the SHOX enhancer [J].

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