Article
Rare Causes and Differential Diagnosis in Patients With Silver-Russell Syndrome.
Clinical genetics - 1 Apr 2025
Braga Barbara Leitao, da Cunha Scalco Renata, Homma Thais Kataoka, Freire Bruna Lucheze, Cellin Laurana De Polli, Canton Ana Pinheiro Machado, Lerario Antônio Marcondes, de Assis Funari Mariana Ferreira, de Souza Vinicius, Bertola Debora Romeo, Malaquias Alexsandra Christianne, Mendonca Berenice Bilharinho, de Lima Jorge Alexander Augusto
Abstract excerpt
Silver-Russell syndrome (SRS) is an imprinting disorder mainly characterized by pre- and postnatal growth restriction. Most SRS cases are due to 11p15.5 loss of methylation (11p15.5 LOM) or maternal uniparental disomy of chromosome 7 [UPD(7)mat], but several patients remain molecularly undiagnosed. This study describes the molecular investigation of children with a clinical diagnosis or suspicion of SRS at a...
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