Clinical genetics
ESAM Loss of Function and Congenital Neurovascular Injury: Strengthening the Case for a Recognizable Clinical Phenotype.
Omar Alomari, Zülal Emel Şentürk, Beyzanur Güney, Akif Ayaz, Safiye Güneş Sager
Published: 202610.1111/cge.70140
Abstract
This schematic illustrates the genetic, molecular, and clinical consequences of ESAM loss-of-function variants identified in two unrelated Turkish families. Family 1 harbors a splice-site variant (c.451 + 5G>C) predicted to cause aberrant splicing be…
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