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A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.
Authors: Kantaputra, P. N.; Mundlos, S.; Sripathomsawat, W.
Date of Publication (YYYY-MM-DD): 2010-10-14
Title of Journal: American Journal of Medical Genetics Part A
Volume: 152A
Issue / Number: 11
Start Page: 2832
End Page: 2837
Document Type: Article
ID: 539471.0
 
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Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.
Authors: Kantaputra, P. N.; Klopocki, E.; Hennig, B. P.; Praphanphoj, V.; Le Caignec, C.; Isidor, B.; Kwee, M. L.; Shears, D. J.; Mundlos, S.
Date of Publication (YYYY-MM-DD): 2010-07-21
Title of Journal: European Journal of Human Genetics
Volume: 18
Issue / Number: 12
Start Page: 1310
End Page: 1314
Document Type: Article
ID: 538393.0
 
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Entries: 1-2  
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