Absence of WNT4 gene mutation in a patient with MURCS association

被引：1

作者：

Shoar, Zohreh

Ganguly, Tapan ^{[1
]}

Anderson, Carol E. ^{[2
]}

De Luca, Francesco ^{[3
]}

Suarez, Elizabeth ^{[3
]}

机构：

[1] Univ Penn, Perelman Sch Med, DNA Sequencing Facil, Philadelphia, PA 19104 USA

[2] Drexel Univ, Coll Med, St Christophers Hosp Children, Genet Sect, Philadelphia, PA 19104 USA

[3] Drexel Univ, Coll Med, St Christophers Hosp Children, Sect Pediat Endocrinol & Diabet, Philadelphia, PA 19104 USA

来源：

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | 2014年 / 27卷 / 5-6期

关键词：

female genitalia; female reproductive system; hyperandrogenism; MURCS association; WNT4; gene; KUSTER-HAUSER-SYNDROME; MULLERIAN DUCT ABNORMALITIES; GONADAL DEVELOPMENT; MRKH SYNDROME; DIFFERENTIATION; DEFICIENCY; CATENIN; MOUSE;

D O I：

10.1515/jpem-2013-0335

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

MURCS (Mullerian duct aplasia, Renal anomalies, and Cervicothoracic Somite dysplasia) association is a group of congenital genito-urinary and skeletal malformations. We report an adolescent girl with the cardinal features of MURCS association, obesity, and clinical findings of hyperandrogenism who did not show any exonic mutation of the WNT4 gene. Our finding excludes WNT4 gene as a candidate for MURCS association and suggests the need for further genetic studies.

引用

页码：555 / 559

页数：5

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