Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdelet...

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Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	O'Donnell-Luria, A, Pais, L, Faundes, V, Lu, X, Taylor, J, Zak, J, al., E
Формат:	Journal article
Хэвлэсэн:	Cell Press 2019

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