Molecular Basis of the Clinical Features of Al-Awadi-Raas-Rothschild (Limb/Pelvis/Uterus-Hypoplasia/Aplasia) Syndrome (AARRS) and Fuhrmann Syndrome

被引：13

作者：

Al-Qattan, M. M. ^{[1
]}

机构：

[1] King Saud Univ, Div Plast Surg, Riyadh 11415, Saudi Arabia

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2013年 / 161卷 / 09期

关键词：

WNT7A; mutations; human; WNT SIGNALING PATHWAY; CONGENITAL DUPLICATION; CARTILAGE DEVELOPMENT; SCHINZEL-PHOCOMELIA; MISSENSE MUTATION; LIMB DEVELOPMENT; GENE-EXPRESSION; SONIC HEDGEHOG; FEEDBACK LOOP; IN-VIVO;

D O I：

10.1002/ajmg.a.35437

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

This paper reviews the molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia-aplasia) (AARRS) syndrome and Fuhrmann syndrome. Human WNT7A mutations are also reviewed. Based on this review, these mutations will be classified into two main groups of phenotypes: Fuhrmann and AARRS phenotypes in which there is partial and complete loss of WNT7A functions, respectively. (c) 2013 Wiley Periodicals, Inc.

引用

页码：2274 / 2280

页数：7

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