Article
Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients.
American journal of medical genetics. Part A - 1 Jul 2020
Haynes Devon, Pollack Lynda, Prasad Chitra, Goobie Sharan, Colaiacovo Samantha, Wolfinger Tara, Lacassie Yves
Abstract excerpt
Basel-Vanagaite-Smirin-Yosef syndrome is a recently described autosomal recessive intellectual disability syndrome caused by variants in the MED25 gene. While it was originally identified in Brazil, it was further described in Israel by authors who are now the namesake of the condition. A 2018 publication further contributed to its delineation, but the patient's phenotype was complicated by a dual diagnosis. More...
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