Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants
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DOI: 10.1002/mgg3.1880
Abstract: De novo variants are a common cause to rare intellectual disability syndromes, associated with low recurrence risk. However, when such variants occur preâzygotically in parental germ cells, the recurrence risk might be higher. Still, the… read more here.
Keywords: intellectual disability; disability syndromes; germline mosaicism; novo variants ... See more keywords
Germline mosaicism in a family with MBD5 haploinsufficiency
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006253
Abstract: Haploinsufficiency of the methyl-CpG-binding domain protein 5 (MBD5) gene causes a neurodevelopmental disorder that includes intellectual disability, developmental delay, speech impairment, seizures, sleep disturbances, and behavioral difficulties. Microdeletion of 2q23.1 is the most common cause… read more here.
Keywords: mbd5 haploinsufficiency; germline mosaicism; family; haploinsufficiency ... See more keywords