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Medline ® Abstract for Reference 17

of 'Evaluation of the infant with atypical genitalia (disorder of sex development)'

17
TI
Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome.
AU
Al-Qattan MM
SO
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.
AD
Division of Plastic Surgery, King Saud University, Riyadh, Saudi Arabia. moqattan@hotmail.com
PMID