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Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome
Journal article   Peer reviewed

Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome

M M Al-Qattan
American journal of medical genetics. Part A, Vol.161A(9), pp.2274-2280
09/2013
DOI: https://doi.org/10.1002/ajmg.a.35437
PMID: 23922166

Abstract

Amenorrhea - diagnosis Amenorrhea - genetics Ectromelia - diagnosis Ectromelia - genetics Foot Deformities, Congenital - diagnosis Foot Deformities, Congenital - genetics Genetic Association Studies Hand Deformities, Congenital - diagnosis Hand Deformities, Congenital - genetics Humans Mutation Pelvic Bones - abnormalities Phenotype Uterus - abnormalities Wnt Proteins - genetics
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.

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