Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
Article Abstract:
Homozygous missense mutations in the dorsoventral-patterning gene WNT7A are found in the families with Fuhrmann syndrome and the Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromes and their functional significance in retroviral-mediated transfection of chicken mesenchyme cell cultures and developing limbs are confirmed. A partial loss of WNT7A function causes Fuhrmann syndrome, whereas the more-severe limb truncation phenotypes observed in Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome have resulted from null mutations.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
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Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome
Article Abstract:
An investigation conducted on two large Han Chinese families with distinctive limb malformations indicates the existence of genotype-phenotype correlation for the limb morphopathies caused by HOXD13 mutations. However, the same minor malformations may be associated with the different limb clinical abnormalities and therefore different limb malformations due to distinct classes of HOXD13 mutations should be considered a continuum of phenotypes.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
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A new subtype of Brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN
Article Abstract:
The article describes the identification of six different point mutations (P35A, P35S, A36P, E48K, R167G, and P187S) in the bone morphogenetic protein (BMP) antagonist NOGGIN (NOG).
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
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