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Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

1 Jan 2016

Abstract excerpt

Stüve-Wiedemann syndrome is a rare autosomal recessive disorder characterized by bowed long bones, joint restrictions, dysautonomia, and respiratory and feeding difficulties, leading to death in the neonatal period and infancy in several occasions. Since the first cases in 1971, much has been learned about this condition, including its molecular basis - mutations in the leukemia inhibitory factor receptor gene...

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PMID: 27194968
DOI: 10.1159/000444729

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