Pathogenic variants in KMT5B, a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM# 617788). Given the relatively recent discovery of this disorder, it has not been fully characterized. Deep phenotyping of the largest (n = 43) patient cohort to date identified that hypotonia and congenital heart defects are prominent features that were previously not associated with this syndrome.
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice / Sarah E Sheppard, L.B.. - In: SCIENCE ADVANCES. - ISSN 2375-2548. - ELETTRONICO. - (2023), pp. 0-0.
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Davide Mei;Renzo Guerrini;
2023
Abstract
Pathogenic variants in KMT5B, a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM# 617788). Given the relatively recent discovery of this disorder, it has not been fully characterized. Deep phenotyping of the largest (n = 43) patient cohort to date identified that hypotonia and congenital heart defects are prominent features that were previously not associated with this syndrome.
File in questo prodotto:
Non ci sono file associati a questo prodotto.
I documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
