| 概要 |
Lui-Jee-Baron syndrome (LJBS) is an X-linked overgrowth syndrome caused by mutations in SPIN4. Clinical presentation includes extreme tall stature, enlarged liver and spleen, and macrocephaly. It has been suggested that SPIN4 normally serves as an epigenetic reader that negatively regulates body size.
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| 著者 |
Lui JC, Wagner J, Zhou E, Dong L, Barnes KM, Jee YH, Baron J |
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