Article
Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.
American journal of human genetics - 4 Dec 2014
Malik Sajid, Percin Ferda E, Bornholdt Dorothea, Albrecht Beate, Percesepe Antonio, Koch Manuela C, Landi Antonio, Fritz Barbara, Khan Rizwan, Mumtaz Sara, Akarsu Nurten A, Grzeschik Karl-Heinz
Abstract excerpt
Mesoaxial synostotic syndactyly, Malik-Percin type (MSSD) (syndactyly type IX) is a rare autosomal-recessive nonsyndromic digit anomaly with only two affected families reported so far. We previously showed that the trait is genetically distinct from other syndactyly types, and through autozygosity mapping we had identified a locus on chromosome 17p13.3 for this unique limb malformation. Here, we extend the number...
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