Article
Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.
JCI insight - 20 Feb 2024
Maharaj Avinaash V, Cottrell Emily, Thanasupawat Thatchawan, Joustra Sjoerd D, Triggs-Raine Barbara, Fujimoto Masanobu, Kant Sarina G, van der Kaay Danielle, Clement-de Boers Agnes, Brooks Alice S, Aguirre Gabriel Amador, Martín Del Estal Irene, Castilla de Cortázar Larrea María Inmaculada, Massoud Ahmed, van Duyvenvoorde Hermine A, De Bruin Christiaan, Hwa Vivian, Klonisch Thomas, Hombach-Klonisch Sabine, Storr Helen L
Abstract excerpt
Silver-Russell syndrome (SRS) is a heterogeneous disorder characterized by intrauterine and postnatal growth retardation. HMGA2 variants are a rare cause of SRS and its functional role in human linear growth is unclear. Patients with suspected SRS negative for 11p15LOM/mUPD7 underwent whole-exome and/or targeted-genome sequencing. Mutant HMGA2 protein expression and nuclear localization were assessed. Two...
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