Homozygous germline c.3380C>G missense mutation in PNPLA6 gene in a case of Gordon Holmes syndrome associated with hypogonadotropic hypogonadism, cerebellar ataxia, and juvenile type tremor.
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| Title: | Homozygous germline c.3380C>G missense mutation in PNPLA6 gene in a case of Gordon Holmes syndrome associated with hypogonadotropic hypogonadism, cerebellar ataxia, and juvenile type tremor. |
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| Authors: | Canbek, Sezin1 (AUTHOR) sezin.canbek@ogr.iu.edu.tr, Şenol, Mehmet Guney2 (AUTHOR) |
| Source: | Journal of Neurosciences in Rural Practice. Oct-Dec2024, Vol. 15 Issue 4, p1-6. 6p. |
| Database: | Academic Search Ultimate |
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