A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family.
Abdoulaye YalcouyéOumou TraoréSalimata DiarraIsabelle SchrauwenKevin EsohMagda Kamila KadlubowskaThashi BharadwajSamuel Mawuli AdadeyMohamed KéitaCheick O GuintoSuzanne M LealGuida LandouréAmbroise WonkamPublished in: Molecular genetics & genomic medicine (2022)
This is the first genetically confirmed case of BO syndrome caused by EYA1 variant in the sub-Saharan African population, expanding the genetic spectrum of the condition.
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