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Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.
Am J Hum Genet. 2006 Aug;79(2):402-8. doi: 10.1086/506332. Epub 2006 Jun 23.
Am J Hum Genet. 2006.
PMID: 16826533
Free PMC article.
Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: a possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild.
Kumar D, Duggan MB, Mueller RF, Karbani G.
Kumar D, et al.
Am J Med Genet. 1997 May 16;70(2):107-13.
Am J Med Genet. 1997.
PMID: 9128926
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