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Browse result for Stuve-wiedemann syndrome

※ introduction

    Stuve-Wiedemann syndrome is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, respiratory distress, and feeding difficulties usually resulting in early death (Dagoneau et al., 2004).

Reference
OMIM: Stuve-wiedemann syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00594P427023977
LIFR
Leukemia inhibitory factor receptor
Homo sapiens