Medline ® Abstract for Reference 17
of 'Evaluation of the infant with atypical genitalia (disorder of sex development)'
Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome.
Am J Med Genet A. 2013 Sep;161A(9):2274-80. Epub 2013 Aug 6.
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.
Division of Plastic Surgery, King Saud University, Riyadh, Saudi Arabia. firstname.lastname@example.org