@article {M{\"u}ller340, author = {J M{\"u}ller and B Gondos and S Kosugi and T Mori and A Shenker}, title = {Severe testotoxicosis phenotype associated with Asp578-->Tyr mutation of the lutrophin/choriogonadotrophin receptor gene.}, volume = {35}, number = {4}, pages = {340--341}, year = {1998}, doi = {10.1136/jmg.35.4.340}, publisher = {BMJ Publishing Group Ltd}, abstract = {Testotoxicosis is a form of male precocious puberty caused by heterogeneous activating mutations in the gene for the lutrophin/choriogonadotrophin receptor (LHR). A patient with an unusually early and severe presentation of testotoxicosis, including profound Leydig cell hyperplasia, was found to have a sporadic mutation encoding Asp578--\>Tyr. The severe testotoxicosis phenotype appears to be related to the strongly activating nature of the Tyr substitution.}, issn = {0022-2593}, URL = {https://jmg.bmj.com/content/35/4/340}, eprint = {https://jmg.bmj.com/content/35/4/340.full.pdf}, journal = {Journal of Medical Genetics} }