A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family
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DOI: 10.1038/hgv.2017.54
Abstract: Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) is a rare non-syndromic limb malformation with autosomal recessive inheritance. To date, only a few affected families with MSSD who had BHLHA9 mutations have been reported. The present… read more here.
Keywords: mesoaxial synostotic; syndactyly phalangeal; novel homozygous; pakistani family ... See more keywords