Article
Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.
American journal of medical genetics. Part A - 1 Mar 2021
Siccha Sofía M, Cueto Anna María, Parrón-Pajares Manuel, González-Morán Gaspar, Pacio-Miguez Marta, Del Pozo Ángela, Solís Mario, Rodriguez-Jimenez Carmen, Caino Silvia, Fano Virginia, Heath Karen E, García-Miñaúr Sixto, Palomares-Bralo María, Santos-Simarro Fernando
Abstract excerpt
Stuve-Wiedemann syndrome (SWS; MIM 601559) is a rare autosomal recessive disease caused by mutations in the leukemia inhibitor factor receptor gene (LIFR). Common clinical and radiological findings are often observed, and high neonatal mortality occurs due to respiratory distress and hyperthermic episodes. Despite initially considered as a lethal disorder during the newborn period, in recent years, several SWS...
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