Al-Awadi-Raas-Rothschild（肢体/骨盆/子宫发育不良/发育不全）综合征（AARRS）和 Fuhrmann 综合征的临床特征的分子基础。
Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome.
机构信息
Division of Plastic Surgery, King Saud University, Riyadh, Saudi Arabia.
出版信息
Am J Med Genet A. 2013 Sep;161A(9):2274-80. doi: 10.1002/ajmg.a.35437. Epub 2013 Aug 6.
PMID:23922166
Abstract
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.
摘要
本文回顾了 Al-Awadi-Raas-Rothschild（肢体/骨盆/子宫发育不良/发育不全）（AARRS）综合征和 Fuhrmann 综合征的临床特征的分子基础，还回顾了人类 WNT7A 突变。基于这篇综述，这些突变可分为两种主要的表型：Fuhrmann 表型和 AARRS 表型，分别存在 WNT7A 功能部分和完全缺失。
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