Rare single gene disorders: estimating baseline prevalence and outcomes worldwide.

Blencowe, Hannah; Moorthie, Sowmiya; Petrou, Mary; Hamamy, Hanan; Povey, Sue; Bittles, Alan; Gibbons, Stephen; Darlison, Matthew; Modell, Bernadette; Congenital Disorders Expert Group; (2018) Rare single gene disorders: estimating baseline prevalence and outcomes worldwide. Journal of community genetics, 9 (4). pp. 397-406. ISSN 1868-310X DOI: https://doi.org/10.1007/s12687-018-0376-2

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