Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome.


BACKGROUND Cantu syndrome is a rare condition which is characterized clinically by hypertrichosis, cardiomegaly and bone abnormalities. Inherited hypertrichoses are very rare human disorders whose incidence has been estimated as low as 1 in 1 billion. The genetic basis of hypertrichosis is largely unknown, and currently no single gene has been directly… (More)
DOI: 10.1159/000333800