#DevelopmentDisorders

Thiago Carvalhocyrilpedia@qoto.org
2023-04-15

'We conducted a large-scale sequencing study involving more than 13,500 families with probands with severe, probably monogenic, difficult-to-diagnose developmental disorders from 24 regional genetics services in the United Kingdom and Ireland.'
#HumanGenetics #DevelopmentDisorders

nejm.org/doi/full/10.1056/NEJM

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