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Results 1 - 3 of 3 for "Stuve-Wiedemann" syndrome
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  1. Stüve-Wiedemann syndrome 
    Stüve-Wiedemann syndrome is a severe condition characterized by bone abnormalities and dysfunction of the autonomic nervous system, which ... reduced bone mineral density (osteopenia).In infants with Stüve-Wiedemann syndrome, dysfunction of the autonomic nervous system typically leads ...
    https://medlineplus.gov/genetics/condition/stuve-wiedemann-syndrome - Genetics
  2. LIFR gene 
    ... the LIFR gene have been found to cause Stüve-Wiedemann syndrome. This severe condition, characterized by abnormally curved (bowed) ... in infancy. Most LIFR gene mutations involved in Stüve-Wiedemann syndrome prevent the production of any LIFR protein. Other ...
    https://medlineplus.gov/genetics/gene/lifr - Genetics
  3. Schwartz-Jampel syndrome 
    ... type 2 is actually part of another disorder, Stüve-Wiedemann syndrome, which is caused by mutations in a different ... Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet. 2004 Feb;74(2): ...
    https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome - Genetics