Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.

Orphanet J Rare Dis · 2020 · PMC7656751 · PMID 33176815

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did not reach statistical significanceno p-value reported

The percentages of patients diagnosed by WES were 47% (7/15) in mild-moderate subjects and 60% (30/50) in severe-profound subjects, the difference of diagnostic methods used in mild and severe patients did not reach statistical significance (Table 4 ).

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