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
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
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
Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome.
Al-Qattan MM
American Journal of Medical Genetics. Part A, 2013
The WNT7A G204S mutation is associated with both Al-Awadi-Raas Rothschild syndrome and Fuhrmann syndrome phenotypes.
Al-Qattan MM et al.
Gene, 2013
A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families.
Eyaid W et al.
American Journal of Medical Genetics. Part A, 2011
A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.
Kantaputra PN et al.
American Journal of Medical Genetics. Part A, 2010
A Japanese male patient with 'fibular aplasia, tibial campomelia and oligodactyly': an additional case report.
Kitaoka T et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2009
Al-Awadi/Raas-Rothschild syndrome: two new cases and review.
Lonardo F et al.
American Journal of Medical Genetics. Part A, 2007
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.
Woods CG et al.
American Journal of Human Genetics, 2006
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