Article
Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies.
BMC medical genomics - 14 May 2024
Tolmacheva Ekaterina, Bolshakova Anna S, Shubina Jekaterina, Rogacheva Margarita S, Ekimov Alexey N, Podurovskaya Julia L, Burov Artem A, Rebrikov Denis V, Bychenko Vladimir G, Trofimov Dmitry Yu, Sukhikh Gennady T
Abstract excerpt
BACKGROUND: Whole exome sequencing allows rapid identification of causative single nucleotide variants and short insertions/deletions in children with congenital anomalies and/or intellectual disability, which aids in accurate diagnosis, prognosis, appropriate therapeutic interventions, and family counselling. Recently, de novo variants in the MED13 gene were described in patients with an intellectual...
Topics
- Humans
- Infant
- Infant, Newborn
- Male
- Abnormalities, Multiple
- Exome Sequencing
- Mediator Complex
- Mutation, Missense
- Phenotype
- Syndrome