Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome.
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. moqattan@hotmail.com
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Al-Qattan
D000568:Amenorrhea / Q000175:diagnosis* / Q000235:genetics*; D004480:Ectromelia / Q000175:diagnosis* / Q000235:genetics*; D005532:Foot Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D056726:Genetic Association Studies; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010384:Pelvic Bones / Q000002:abnormalities*; D010641:Phenotype; D014599:Uterus / Q000002:abnormalities*; D051153:Wnt Proteins / Q000235:genetics
C092778:WNT7A protein, human; D051153:Wnt Proteins
WNT7A; human; mutations