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.
Keywords:
WNT7A; human; mutations.
Copyright © 2013 Wiley Periodicals, Inc.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Amenorrhea / diagnosis*
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Amenorrhea / genetics*
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Ectromelia / diagnosis*
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Ectromelia / genetics*
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Foot Deformities, Congenital / diagnosis*
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Foot Deformities, Congenital / genetics*
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Genetic Association Studies
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Hand Deformities, Congenital / diagnosis*
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Hand Deformities, Congenital / genetics*
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Humans
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Mutation
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Pelvic Bones / abnormalities*
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Phenotype
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Uterus / abnormalities*
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Wnt Proteins / genetics
Substances
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WNT7A protein, human
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Wnt Proteins
Supplementary concepts
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Al Awadi syndrome
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Fuhrmann syndrome