Article
A case report of Noonan syndrome-like disorder with loose anagen hair 2 treated with recombinant human growth hormone.
American journal of medical genetics. Part A - 1 Aug 2020
Zhou Ping, Zhu Lin, Fan Qiongli, Liu Yongfang, Zhang Tianxiu, Yang Ting, Chen Jie, Cheng Qian, Li Tingyu, Chen Li
Abstract excerpt
Protein phosphatase 1 catalytic subunit beta (PPP1CB) is a disease-causing gene of Noonan-like syndrome, which acts via the RAS/MAPK pathway. To date, only 17 patients diagnosed with PPP1CB-related Noonan-like syndrome have been reported around the world, with few reports in Asia. Twelve reported patients are of short stature and only one patient was treated with growth hormone (GH); however, follow-up data is...
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