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Smith-Lemli-Opitz syndrome is a well-described autosomal recessive disorder associated with a range of congenital malformations including among others postaxial polydactyly and 2-3 toe cutaneous [...]

A plethora of factors act together in the cell to ensure that DNA is correctly duplicated and distributed to daughter cells during cell division. Scientists have now uncovered a new factor [...]

It is an extremely rare congenital disease with a very striking appearance: When children are born with no nose or with incompletely developed nasal structures, they have a condition called [...]