Associated Papers
Santos syndrome is caused by mutation in the WNT7A gene.
Alves LU et al.
Journal of Human Genetics, 2017
A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus.
Mutlu MB et al.
European Journal of Medical Genetics, 2016
A report of two cases of Al-Awadi Raas-Rothschild syndrome (AARRS) supporting that "apparent" Phocomelia differentiates AARRS from Schinzel Phocomelia syndrome (SPS).
AlQattan MM et al.
Gene, 2013
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